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SNP Detail For rs1260326
1.Mapping Information
| Human SNP ID | rs1260326 |
|---|---|
| Human chromosome | chr2 |
| Human SNP position | 27508073 |
| Pig chromosome | chr3 |
| Pig SNP position | 118809041 |
2.Annotation Information
| PubMed ID | 18454146 |
|---|---|
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/18454146 |
| Study | Common genetic variation near MC4R is associated with waist circumference and insulin resistance. |
| Disease/Trait | Waist circumference and related phenotypes |
| Initial sample | 2,684 Indian Asian ancestry male individuals |
| Replication sample | 7,394 Indian Asian ancestry individuals, 4,561 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.00000004 |
| Pvalue mlog | 7.39794000867203 |
| P value text | (triglycerides) |
| Or beta | |
| %95 Ci | |
| Platform | Illumina [308067] |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST000184 |
| PubMed ID | 21943158 |
| Journal | BMC Med Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21943158 |
| Study | Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. |
| Disease/Trait | Cardiovascular disease risk factors |
| Initial sample | 11,683 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.4 |
| P value | 0.00000002 |
| Pvalue mlog | 7.69897000433601 |
| P value text | (TRIG) |
| Or beta | 0.082 |
| %95 Ci | [0.053-0.111] mmol/l increase |
| Platform | Illumina [NR] (imputed) |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST001247 |
| PubMed ID | 22001757 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/22001757 |
| Study | Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. |
| Disease/Trait | Liver enzyme levels (gamma-glutamyl transferase) |
| Initial sample | Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR, C2orf16 |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.38 |
| P value | 0.0000000000004 |
| Pvalue mlog | 12.397940008672 |
| P value text | |
| Or beta | 3.2 |
| %95 Ci | [2.40-4.0] % increase |
| Platform | Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) |
| CNV | N |
| Mapped trait | serum gamma-glutamyl transferase measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004532 |
| Study accession | GCST001277 |
| PubMed ID | 20686565 |
| Journal | Nature |
| Link | www.ncbi.nlm.nih.gov/pubmed/20686565 |
| Study | Biological, clinical and population relevance of 95 loci for blood lipids. |
| Disease/Trait | Triglycerides |
| Initial sample | 96,598 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 6E-133 |
| Pvalue mlog | 132.221848749616 |
| P value text | |
| Or beta | 8.76 |
| %95 Ci | [7.98-9.54] mg/dL increase |
| Platform | Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST000758 |
| PubMed ID | 19060910 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19060910 |
| Study | Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. |
| Disease/Trait | Metabolic traits |
| Initial sample | 4,763 Northern Finnish founder individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-A |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.35 |
| P value | 0.0000000004 |
| Pvalue mlog | 9.39794000867203 |
| P value text | (TG) |
| Or beta | 0.09 |
| %95 Ci | [0.06-0.12] mmol/l increase |
| Platform | Illumina [329091] |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST000292 |
| PubMed ID | 19060906 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19060906 |
| Study | Common variants at 30 loci contribute to polygenic dyslipidemia. |
| Disease/Trait | Triglycerides |
| Initial sample | 19,840 European ancestry individuals |
| Replication sample | Up to 20,623 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.45 |
| P value | 2E-31 |
| Pvalue mlog | 30.698970004336 |
| P value text | |
| Or beta | 0.12 |
| %95 Ci | [0.08-0.16] s.d. increase |
| Platform | Affymetrix, Illumina [~ 2600000] (imputed) |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST000286 |
| PubMed ID | 20657596 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20657596 |
| Study | Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. |
| Disease/Trait | Hypertriglyceridemia |
| Initial sample | 463 European ancestry cases, 1,197 European ancestry controls |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 0.000000007 |
| Pvalue mlog | 8.15490195998574 |
| P value text | |
| Or beta | 1.75 |
| %95 Ci | [1.45-2.12] |
| Platform | Affymetrix [~ 2100000] (imputed) |
| CNV | N |
| Mapped trait | Hypertriglyceridemia |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004211 |
| Study accession | GCST000737 |
| PubMed ID | 21300955 |
| Journal | Circulation |
| Link | www.ncbi.nlm.nih.gov/pubmed/21300955 |
| Study | Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. |
| Disease/Trait | C-reactive protein levels |
| Initial sample | 63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals |
| Replication sample | 16,540 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 5E-40 |
| Pvalue mlog | 39.3010299956639 |
| P value text | |
| Or beta | 0.072 |
| %95 Ci | [0.06-0.08] unit increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | C-reactive protein measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004458 |
| Study accession | GCST000965 |
| PubMed ID | 20686565 |
| Journal | Nature |
| Link | www.ncbi.nlm.nih.gov/pubmed/20686565 |
| Study | Biological, clinical and population relevance of 95 loci for blood lipids. |
| Disease/Trait | Cholesterol, total |
| Initial sample | 100,184 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 7E-27 |
| Pvalue mlog | 26.1549019599857 |
| P value text | |
| Or beta | 1.91 |
| %95 Ci | [1.54-2.28] mg/dL increase |
| Platform | Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) |
| CNV | N |
| Mapped trait | total cholesterol measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004574 |
| Study accession | GCST000760 |
| PubMed ID | 22286219 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/22286219 |
| Study | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. |
| Disease/Trait | Metabolite levels |
| Initial sample | 8,330 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.000000000000000003 |
| Pvalue mlog | 17.5228787452803 |
| P value text | (Ala, Gln) |
| Or beta | 0.15 |
| %95 Ci | [0.11-0.19] unit decrease |
| Platform | Illumina [~ 7700000] (imputed) |
| CNV | N |
| Mapped trait | metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004725 |
| Study accession | GCST001391 |
| PubMed ID | 22558069 |
| Journal | PLoS One |
| Link | www.ncbi.nlm.nih.gov/pubmed/22558069 |
| Study | Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese. |
| Disease/Trait | Non-albumin protein levels |
| Initial sample | Up to 9,103 Japanese ancestry individuals |
| Replication sample | Up to 1,629 Japanese ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-C |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.445 |
| P value | 0.000000003 |
| Pvalue mlog | 8.52287874528033 |
| P value text | (ALB) |
| Or beta | 0.08 |
| %95 Ci | [0.053-0.107] unit decrease |
| Platform | Illumina [2178644] (imputed) |
| CNV | N |
| Mapped trait | serum albumin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004535 |
| Study accession | GCST001496 |
| PubMed ID | 20081857 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20081857 |
| Study | Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. |
| Disease/Trait | Two-hour glucose challenge |
| Initial sample | 15,234 individuals |
| Replication sample | up to 30,620 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.0000000003 |
| Pvalue mlog | 9.52287874528033 |
| P value text | |
| Or beta | 0.07 |
| %95 Ci | [0.05-0.09] mmol/L increase |
| Platform | Affymetrix, Illumina [NR] |
| CNV | N |
| Mapped trait | glucose tolerance test |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004307 |
| Study accession | GCST000569 |
| PubMed ID | 20383146 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20383146 |
| Study | New loci associated with kidney function and chronic kidney disease. |
| Disease/Trait | Chronic kidney disease |
| Initial sample | Up to 67,093 European ancestry individuals |
| Replication sample | Up to 22,982 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | FNDC4, IFT172, GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 0.00000000000003 |
| Pvalue mlog | 13.5228787452803 |
| P value text | (eGFRcrea) |
| Or beta | 0.01 |
| %95 Ci | [0.007-0.011] ml/min/1.73 m2 increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | chronic kidney disease, serum creatinine measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003884, http://www.ebi.ac.uk/efo/EFO_0004518 |
| Study accession | GCST000649 |
| PubMed ID | 22916037 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/22916037 |
| Study | Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. |
| Disease/Trait | Metabolite levels |
| Initial sample | 6,608 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.36 |
| P value | 0.000000000001 |
| Pvalue mlog | 12 |
| P value text | |
| Or beta | |
| %95 Ci | |
| Platform | Illumina [~ 2000000] (imputed) |
| CNV | N |
| Mapped trait | coronary artery calcification |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004723 |
| Study accession | GCST001639 |
| PubMed ID | 22139419 |
| Journal | Nature |
| Link | www.ncbi.nlm.nih.gov/pubmed/22139419 |
| Study | New gene functions in megakaryopoiesis and platelet formation. |
| Disease/Trait | Platelet count |
| Initial sample | 47,005 European ancestry individuals, 1,661 Val Borbera individuals |
| Replication sample | Up to 18,838 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.0000000009 |
| Pvalue mlog | 9.04575749056067 |
| P value text | |
| Or beta | 2.334 |
| %95 Ci | [1.59-3.08] 10^9/l increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | platelet count |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004309 |
| Study accession | GCST001337 |
| PubMed ID | 20139978 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
| Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
| Disease/Trait | Hematological and biochemical traits |
| Initial sample | Up to 14,402 Japanese individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-C |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.44 |
| P value | 0.000000004 |
| Pvalue mlog | 8.39794000867203 |
| P value text | (ALB) |
| Or beta | 0.085 |
| %95 Ci | [0.056-0.114] unit decrease |
| Platform | Illumina [561583] |
| CNV | N |
| Mapped trait | serum albumin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004535 |
| Study accession | GCST000583 |
| PubMed ID | 20139978 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
| Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
| Disease/Trait | Triglycerides |
| Initial sample | 8,993 Japanese ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-C |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.45 |
| P value | 0.00000000001 |
| Pvalue mlog | 11 |
| P value text | |
| Or beta | 0.101 |
| %95 Ci | [0.072-0.13] unit decrease |
| Platform | Illumina [561583] |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST000584 |
| PubMed ID | 23505323 |
| Journal | J Med Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23505323 |
| Study | Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. |
| Disease/Trait | Hypertriglyceridemia |
| Initial sample | 1,122 Mexican ancestry cases, 1,118 Mexican ancestry controls |
| Replication sample | 1,067 Mexican ancestry cases, 1,054 Mexican ancestry controls |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | ZNF512, KRTCAP3, FNDC4, IFT172, GCKR, PPM1G, NRBP1, C2orf16 |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.26 |
| P value | 0.0000000000002 |
| Pvalue mlog | 12.698970004336 |
| P value text | |
| Or beta | 1.41 |
| %95 Ci | [1.31-1.51] |
| Platform | Illumina [1361436] (imputed) |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST001905 |
| PubMed ID | 23022100 |
| Journal | Am J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23022100 |
| Study | Discovery and fine mapping of serum protein loci through transethnic meta-analysis. |
| Disease/Trait | Serum albumin level |
| Initial sample | Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | FNDC4, GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 0.00000000000003 |
| Pvalue mlog | 13.5228787452803 |
| P value text | (EA) |
| Or beta | 0.0124 |
| %95 Ci | [0.0093-0.0155] unit increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum albumin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004535 |
| Study accession | GCST001699 |
| PubMed ID | 23022100 |
| Journal | Am J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23022100 |
| Study | Discovery and fine mapping of serum protein loci through transethnic meta-analysis. |
| Disease/Trait | Serum albumin level |
| Initial sample | Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | FNDC4, GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.56 |
| P value | 0.00000002 |
| Pvalue mlog | 7.69897000433601 |
| P value text | (Japanese) |
| Or beta | 0.027 |
| %95 Ci | [0.017-0.037] unit increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum albumin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004535 |
| Study accession | GCST001699 |
| PubMed ID | 23022100 |
| Journal | Am J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23022100 |
| Study | Discovery and fine mapping of serum protein loci through transethnic meta-analysis. |
| Disease/Trait | Serum total protein level |
| Initial sample | Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | FNDC4, GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.56 |
| P value | 0.000004 |
| Pvalue mlog | 5.39794000867203 |
| P value text | (Japanese) |
| Or beta | 0.031 |
| %95 Ci | [0.017-0.045] unit increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | total blood protein measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004536 |
| Study accession | GCST001698 |
| PubMed ID | 23022100 |
| Journal | Am J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23022100 |
| Study | Discovery and fine mapping of serum protein loci through transethnic meta-analysis. |
| Disease/Trait | Serum albumin level |
| Initial sample | Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR-FNDC4 |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 4E-19 |
| Pvalue mlog | 18.397940008672 |
| P value text | |
| Or beta | 0.0138 |
| %95 Ci | [0.011-0.017] unit increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum albumin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004535 |
| Study accession | GCST001699 |
| PubMed ID | 23022100 |
| Journal | Am J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23022100 |
| Study | Discovery and fine mapping of serum protein loci through transethnic meta-analysis. |
| Disease/Trait | Serum total protein level |
| Initial sample | Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | FNDC4, GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.44 |
| P value | 0.00000006 |
| Pvalue mlog | 7.22184874961635 |
| P value text | |
| Or beta | 0.0179 |
| %95 Ci | [0.011-0.024] unit increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | total blood protein measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004536 |
| Study accession | GCST001698 |
| PubMed ID | 23118302 |
| Journal | Circ Cardiovasc Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23118302 |
| Study | Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. |
| Disease/Trait | Lipoprotein-associated phospholipase A2 activity and mass |
| Initial sample | 6,851 European ancestry individuals |
| Replication sample | 13,664 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.44 |
| P value | 0.000005 |
| Pvalue mlog | 5.30102999566398 |
| P value text | (mass) |
| Or beta | 0.0053 |
| %95 Ci | [-0.00215-0.01275] ng/ml decrease |
| Platform | Illumina [796174] |
| CNV | N |
| Mapped trait | lipoprotein-associated phospholipase A(2) measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004746 |
| Study accession | GCST001727 |
| PubMed ID | 19936222 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19936222 |
| Study | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
| Disease/Trait | Lipid metabolism phenotypes |
| Initial sample | Up to 17,296 European ancestry female individuals |
| Replication sample | Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 4E-32 |
| Pvalue mlog | 31.397940008672 |
| P value text | (TG.assay, fasting) |
| Or beta | 0.075 |
| %95 Ci | [NR] unit increase |
| Platform | Illumina [335603] |
| CNV | N |
| Mapped trait | lipid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004529 |
| Study accession | GCST000533 |
| PubMed ID | 19936222 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19936222 |
| Study | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
| Disease/Trait | Lipid metabolism phenotypes |
| Initial sample | Up to 17,296 European ancestry female individuals |
| Replication sample | Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 1E-37 |
| Pvalue mlog | 37 |
| P value text | (TG.assay, whole) |
| Or beta | 0.07 |
| %95 Ci | [NR] unit increase |
| Platform | Illumina [335603] |
| CNV | N |
| Mapped trait | lipid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004529 |
| Study accession | GCST000533 |
| PubMed ID | 19936222 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19936222 |
| Study | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
| Disease/Trait | Lipid metabolism phenotypes |
| Initial sample | Up to 17,296 European ancestry female individuals |
| Replication sample | Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 3E-29 |
| Pvalue mlog | 28.5228787452803 |
| P value text | (TG.by.NMR, fasting) |
| Or beta | 0.056 |
| %95 Ci | [NR] unit increase |
| Platform | Illumina [335603] |
| CNV | N |
| Mapped trait | lipid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004529 |
| Study accession | GCST000533 |
| PubMed ID | 19936222 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19936222 |
| Study | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
| Disease/Trait | Lipid metabolism phenotypes |
| Initial sample | Up to 17,296 European ancestry female individuals |
| Replication sample | Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 3E-35 |
| Pvalue mlog | 34.5228787452803 |
| P value text | (TG.by.NMR, whole) |
| Or beta | 0.052 |
| %95 Ci | [NR] unit increase |
| Platform | Illumina [335603] |
| CNV | N |
| Mapped trait | lipid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004529 |
| Study accession | GCST000533 |
| PubMed ID | 19936222 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19936222 |
| Study | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
| Disease/Trait | Lipid metabolism phenotypes |
| Initial sample | Up to 17,296 European ancestry female individuals |
| Replication sample | Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 4E-24 |
| Pvalue mlog | 23.397940008672 |
| P value text | (VLDL.large, fasting) |
| Or beta | 0.362 |
| %95 Ci | [NR] unit increase |
| Platform | Illumina [335603] |
| CNV | N |
| Mapped trait | lipid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004529 |
| Study accession | GCST000533 |
| PubMed ID | 19936222 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19936222 |
| Study | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
| Disease/Trait | Lipid metabolism phenotypes |
| Initial sample | Up to 17,296 European ancestry female individuals |
| Replication sample | Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 3E-28 |
| Pvalue mlog | 27.5228787452803 |
| P value text | (VLDL.large, whole) |
| Or beta | 0.342 |
| %95 Ci | [NR] unit increase |
| Platform | Illumina [335603] |
| CNV | N |
| Mapped trait | lipid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004529 |
| Study accession | GCST000533 |
| PubMed ID | 24816252 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
| Study | An atlas of genetic influences on human blood metabolites. |
| Disease/Trait | Blood metabolite ratios |
| Initial sample | Up to 5,591 European ancestry individuals |
| Replication sample | Up to 1,767 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 3E-148 |
| Pvalue mlog | 147.52287874528 |
| P value text | (glucose/mannose) |
| Or beta | 0.041 |
| %95 Ci | [0.037-0.045] unit increase |
| Platform | Affymetrix, Illumina [2100000] (imputed) |
| CNV | N |
| Mapped trait | blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002442 |
| PubMed ID | 23903356 |
| Journal | Diabetes |
| Link | www.ncbi.nlm.nih.gov/pubmed/23903356 |
| Study | Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. |
| Disease/Trait | Glycemic traits (pregnancy) |
| Initial sample | 1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals |
| Replication sample | 2,798 European ancestry individuals, 228 French Canadian founder population individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.409 |
| P value | 0.0000000000006 |
| Pvalue mlog | 12.2218487496163 |
| P value text | (FPG) |
| Or beta | 0.0044 |
| %95 Ci | [NR] unit decrease |
| Platform | Illumina [up to 945994] (imputed) |
| CNV | N |
| Mapped trait | fasting blood glucose measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004465 |
| Study accession | GCST002110 |
| PubMed ID | 23903356 |
| Journal | Diabetes |
| Link | www.ncbi.nlm.nih.gov/pubmed/23903356 |
| Study | Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. |
| Disease/Trait | Glycemic traits (pregnancy) |
| Initial sample | 1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals |
| Replication sample | 2,798 European ancestry individuals, 228 French Canadian founder population individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.409 |
| P value | 0.00000000006 |
| Pvalue mlog | 10.2218487496163 |
| P value text | (FCP) |
| Or beta | 0.0116 |
| %95 Ci | [NR] unit decrease |
| Platform | Illumina [up to 945994] (imputed) |
| CNV | N |
| Mapped trait | C-peptide measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005187 |
| Study accession | GCST002110 |
| PubMed ID | 24386095 |
| Journal | PLoS One |
| Link | www.ncbi.nlm.nih.gov/pubmed/24386095 |
| Study | A genome wide association study identifies common variants associated with lipid levels in the Chinese population. |
| Disease/Trait | Lipid traits |
| Initial sample | 3,451 Han Chinese ancestry individuals |
| Replication sample | 8,830 Han Chinese ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.44 |
| P value | 0.0000003 |
| Pvalue mlog | 6.52287874528033 |
| P value text | (TG) |
| Or beta | 0.07 |
| %95 Ci | mmol/L increase |
| Platform | Affymetrix, Illumina [up to 2249917] (imputed) |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST002321 |
| PubMed ID | 24816252 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
| Study | An atlas of genetic influences on human blood metabolites. |
| Disease/Trait | Blood metabolite levels |
| Initial sample | 7,824 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 1E-77 |
| Pvalue mlog | 77 |
| P value text | (mannose) |
| Or beta | 0.044 |
| %95 Ci | [0.04-0.048] unit decrease |
| Platform | Affymetrix, Illumina [2100000] (imputed) |
| CNV | N |
| Mapped trait | blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002443 |
| PubMed ID | 24816252 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
| Study | An atlas of genetic influences on human blood metabolites. |
| Disease/Trait | Blood metabolite levels |
| Initial sample | 7,824 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 0.00000000000006 |
| Pvalue mlog | 13.2218487496163 |
| P value text | (alanine) |
| Or beta | 0.013 |
| %95 Ci | [0.0091-0.0169] unit increase |
| Platform | Affymetrix, Illumina [2100000] (imputed) |
| CNV | N |
| Mapped trait | blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002443 |
| PubMed ID | 24097068 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/24097068 |
| Study | Discovery and refinement of loci associated with lipid levels. |
| Disease/Trait | Cholesterol, total |
| Initial sample | 94,595 European ancestry individuals |
| Replication sample | 93,982 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.39 |
| P value | 3E-42 |
| Pvalue mlog | 41.5228787452803 |
| P value text | |
| Or beta | 0.051 |
| %95 Ci | [NR] unit increase |
| Platform | NR [NR] (imputed) |
| CNV | N |
| Mapped trait | total cholesterol measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004574 |
| Study accession | GCST002221 |
| PubMed ID | 24097068 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/24097068 |
| Study | Discovery and refinement of loci associated with lipid levels. |
| Disease/Trait | Triglycerides |
| Initial sample | 94,595 European ancestry individuals |
| Replication sample | 93,982 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.39 |
| P value | 2E-239 |
| Pvalue mlog | 238.698970004336 |
| P value text | |
| Or beta | 0.115 |
| %95 Ci | [NR] mg/dL increase |
| Platform | NR [NR] (imputed) |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST002216 |
| PubMed ID | 23263486 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23263486 |
| Study | Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. |
| Disease/Trait | Urate levels |
| Initial sample | 49,825 European ancestry males, 60,522 European ancestry females |
| Replication sample | Up to 32,813 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 1E-44 |
| Pvalue mlog | 44 |
| P value text | |
| Or beta | 0.074 |
| %95 Ci | [0.063-0.084] mg/dl increase |
| Platform | Affymetrix, Illumina, Perlegen [2450547] (imputed) |
| CNV | N |
| Mapped trait | urate measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004531 |
| Study accession | GCST001791 |
| PubMed ID | 25288136 |
| Journal | Mol Psychiatry |
| Link | www.ncbi.nlm.nih.gov/pubmed/25288136 |
| Study | Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. |
| Disease/Trait | Coffee consumption (cups per day) |
| Initial sample | 91,462 European ancestry individuals |
| Replication sample | 30,062 European ancestry individuals, 7,964 African American individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR, FNDC4 |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 0.00000007 |
| Pvalue mlog | 7.15490195998574 |
| P value text | |
| Or beta | 0.04 |
| %95 Ci | [0.020-0.060] unit decrease |
| Platform | Affymetrix, Illumina [2373958] (imputed) |
| CNV | N |
| Mapped trait | coffee consumption, cups of coffee per day measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004330, http://www.ebi.ac.uk/efo/EFO_0006782 |
| Study accession | GCST002650 |
| PubMed ID | 26433129 |
| Journal | Diabet Med |
| Link | www.ncbi.nlm.nih.gov/pubmed/26433129 |
| Study | GCKR and PPP1R3B identified as genome-wide significant loci for plasma lactate: the Atherosclerosis Risk in Communities (ARIC) study. |
| Disease/Trait | Plasma lactate levels |
| Initial sample | 6,901 European ancestry individuals |
| Replication sample | 1,671 African American individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 4E-52 |
| Pvalue mlog | 51.397940008672 |
| P value text | |
| Or beta | 0.08 |
| %95 Ci | [NR] unit increase |
| Platform | Affymetrix [~ 38000000] (imputed) |
| CNV | N |
| Mapped trait | lactate measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007745 |
| Study accession | GCST003147 |
| PubMed ID | 26433129 |
| Journal | Diabet Med |
| Link | www.ncbi.nlm.nih.gov/pubmed/26433129 |
| Study | GCKR and PPP1R3B identified as genome-wide significant loci for plasma lactate: the Atherosclerosis Risk in Communities (ARIC) study. |
| Disease/Trait | Plasma lactate levels |
| Initial sample | 6,901 European ancestry individuals |
| Replication sample | 1,671 African American individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 2E-47 |
| Pvalue mlog | 46.698970004336 |
| P value text | (EA) |
| Or beta | 0.08 |
| %95 Ci | [0.068-0.092] unit increase |
| Platform | Affymetrix [~ 38000000] (imputed) |
| CNV | N |
| Mapped trait | lactate measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007745 |
| Study accession | GCST003147 |
| PubMed ID | 25961943 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/25961943 |
| Study | The impact of low-frequency and rare variants on lipid levels. |
| Disease/Trait | Cholesterol, total |
| Initial sample | up to 62,166 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.36 |
| P value | 0.0000000000003 |
| Pvalue mlog | 12.5228787452803 |
| P value text | |
| Or beta | 0.045 |
| %95 Ci | [0.033-0.057] s.d. increase |
| Platform | Affymetrix, Illumina, Perlegen [up to 9657952] (imputed) |
| CNV | N |
| Mapped trait | total cholesterol measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004574 |
| Study accession | GCST002896 |
| PubMed ID | 25961943 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/25961943 |
| Study | The impact of low-frequency and rare variants on lipid levels. |
| Disease/Trait | Triglycerides |
| Initial sample | up to 62,166 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.36 |
| P value | 5E-88 |
| Pvalue mlog | 87.3010299956639 |
| P value text | |
| Or beta | 0.123 |
| %95 Ci | [0.11-0.13] s.d. increase |
| Platform | Affymetrix, Illumina, Perlegen [up to 9657952] (imputed) |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST002897 |
| PubMed ID | 25811787 |
| Journal | PLoS One |
| Link | www.ncbi.nlm.nih.gov/pubmed/25811787 |
| Study | Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans. |
| Disease/Trait | Urate levels in overweight individuals |
| Initial sample | up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-C |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.58 |
| P value | 0.0000008 |
| Pvalue mlog | 6.09691001300805 |
| P value text | |
| Or beta | 0.055 |
| %95 Ci | [0.033-0.077] kg/m2 decrease |
| Platform | Affymetrix, Illumina [at least 188473] (imputed) |
| CNV | N |
| Mapped trait | urate measurement, overweight body mass index status |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004531, http://www.ebi.ac.uk/efo/EFO_0005935 |
| Study accession | GCST002829 |
| PubMed ID | 25811787 |
| Journal | PLoS One |
| Link | www.ncbi.nlm.nih.gov/pubmed/25811787 |
| Study | Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans. |
| Disease/Trait | Urate levels in overweight individuals |
| Initial sample | up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-C |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.58 |
| P value | 0.000006 |
| Pvalue mlog | 5.22184874961635 |
| P value text | (men) |
| Or beta | 0.065 |
| %95 Ci | [0.038-0.092] kg/m2 decrease |
| Platform | Affymetrix, Illumina [at least 188473] (imputed) |
| CNV | N |
| Mapped trait | urate measurement, overweight body mass index status |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004531, http://www.ebi.ac.uk/efo/EFO_0005935 |
| Study accession | GCST002829 |
| PubMed ID | 26174136 |
| Journal | Nat Commun |
| Link | www.ncbi.nlm.nih.gov/pubmed/26174136 |
| Study | Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels. |
| Disease/Trait | Serum alpha1-antitrypsin levels |
| Initial sample | 3,294 Japanese ancestry individuals |
| Replication sample | 6,065 Japanese ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-C |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.432 |
| P value | 0.0000000000000003 |
| Pvalue mlog | 15.5228787452803 |
| P value text | |
| Or beta | 2.05 |
| %95 Ci | [1.56-2.54] mg dl-1 increase |
| Platform | Illumina [6569727] (imputed) |
| CNV | N |
| Mapped trait | serum alpha-1-antitrypsin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005415 |
| Study accession | GCST003028 |
| PubMed ID | 25646370 |
| Journal | Ann Rheum Dis |
| Link | www.ncbi.nlm.nih.gov/pubmed/25646370 |
| Study | Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes. |
| Disease/Trait | Gout |
| Initial sample | 945 Japanese ancestry cases, 1,213 Japanese ancestry controls |
| Replication sample | 1,048 Japanese ancestry cases, 1,334 Japanese ancestry controls |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | GCKR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-T |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.55 |
| P value | 0.000000000002 |
| Pvalue mlog | 11.698970004336 |
| P value text | |
| Or beta | 1.36 |
| %95 Ci | [1.25-1.48] |
| Platform | Illumina [570442] |
| CNV | N |
| Mapped trait | gout |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004274 |
| Study accession | GCST002773 |
| PubMed ID | 25898920 |
| Journal | Eur J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/25898920 |
| Study | Genomics and metabolomics of muscular mass in community-based sample of UK females. |
| Disease/Trait | Blood metabolite levels |
| Initial sample | 3,953 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | NR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-? |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 6E-56 |
| Pvalue mlog | 55.2218487496163 |
| P value text | (Mannose levels) |
| Or beta | |
| %95 Ci | |
| Platform | Illumina [2300000] |
| CNV | N |
| Mapped trait | mannose measurement, blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006958, http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002872 |
| PubMed ID | 26192919 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/26192919 |
| Study | Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. |
| Disease/Trait | Inflammatory bowel disease |
| Initial sample | 12,882 European ancestry cases, 21,770 European ancestry controls |
| Replication sample | 25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27508073 |
| Reported gene | NR |
| Mapped gene | GCKR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2646 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1260326-A |
| SNPs | rs1260326 |
| Merged | 0 |
| SNP id current | 1260326 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.4059 |
| P value | 0.00000000000001 |
| Pvalue mlog | 14 |
| P value text | (EA) |
| Or beta | 1.080162 |
| %95 Ci | [1.06-1.1] |
| Platform | Affymetrix, Illumina [~ 9000000] (imputed) |
| CNV | N |
| Mapped trait | inflammatory bowel disease |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003767 |
| Study accession | GCST003043 |
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