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SNP Detail For rs780094
1.Mapping Information
| Human SNP ID | rs780094 |
|---|---|
| Human chromosome | chr2 |
| Human SNP position | 27518370 |
| Pig chromosome | chr3 |
| Pig SNP position | 118818916 |
2.Annotation Information
| PubMed ID | 18193043 |
|---|---|
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/18193043 |
| Study | Newly identified loci that influence lipid concentrations and risk of coronary artery disease. |
| Disease/Trait | Triglycerides |
| Initial sample | 8,684 European ancestry individuals |
| Replication sample | 9,741 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-T |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.39 |
| P value | 6E-32 |
| Pvalue mlog | 31.2218487496163 |
| P value text | |
| Or beta | 8.59 |
| %95 Ci | [NR] mg/dl increase |
| Platform | Affymetrix, Illumina [~ 2261000] (imputed) |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST000139 |
| PubMed ID | 18439548 |
| Journal | Am J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/18439548 |
| Study | Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women__s Genome Health Study. |
| Disease/Trait | C-reactive protein |
| Initial sample | 6,345 European ancestry female individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-A |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.000000000000007 |
| Pvalue mlog | 14.1549019599857 |
| P value text | |
| Or beta | 0.14 |
| %95 Ci | [NR] mg/dl increase |
| Platform | Illumina [336108] |
| CNV | N |
| Mapped trait | C-reactive protein measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004458 |
| Study accession | GCST000178 |
| PubMed ID | 18179892 |
| Journal | Am J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/18179892 |
| Study | Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. |
| Disease/Trait | LDL cholesterol |
| Initial sample | 1,955 European ancestry hypertensive individuals |
| Replication sample | 2,033 European ancestry individuals from 519 families, 1,461 European ancestry twins |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-T |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.39 |
| P value | 0.0000005 |
| Pvalue mlog | 6.30102999566398 |
| P value text | |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix [400496] |
| CNV | N |
| Mapped trait | low density lipoprotein cholesterol measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004611 |
| Study accession | GCST000131 |
| PubMed ID | 18193044 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/18193044 |
| Study | Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. |
| Disease/Trait | Triglycerides |
| Initial sample | 2,758 individuals |
| Replication sample | 18,544 individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-T |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.34 |
| P value | 0.00000000000003 |
| Pvalue mlog | 13.5228787452803 |
| P value text | |
| Or beta | 0.13 |
| %95 Ci | [0.09-0.17] percentage SD increase |
| Platform | Affymetrix [389878] |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST000138 |
| PubMed ID | 19060911 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19060911 |
| Study | Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. |
| Disease/Trait | Triglycerides |
| Initial sample | 17,100 European ancestry individuals, 715 Orcadian individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-G |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.63 |
| P value | 3E-20 |
| Pvalue mlog | 19.5228787452803 |
| P value text | |
| Or beta | 0.1 |
| %95 Ci | [NR] s.d. decrease |
| Platform | Affymetrix, Illumina [up to 600000] |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST000289 |
| PubMed ID | 21829377 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21829377 |
| Study | Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. |
| Disease/Trait | Phospholipid levels (plasma) |
| Initial sample | 8,866 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-T |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.000000009 |
| Pvalue mlog | 8.04575749056067 |
| P value text | (DPA) |
| Or beta | 0.02 |
| %95 Ci | [NR] % increase |
| Platform | Affymetrix, Illumina [NR] |
| CNV | N |
| Mapped trait | phospholipid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004639 |
| Study accession | GCST001179 |
| PubMed ID | 19503597 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19503597 |
| Study | Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. |
| Disease/Trait | Uric acid levels |
| Initial sample | 12,328 European ancestry males, 15,813 European ancestry females |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-T |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.42 |
| P value | 0.000000001 |
| Pvalue mlog | 9 |
| P value text | |
| Or beta | 0.05 |
| %95 Ci | [0.035-0.068] mg/dl increase |
| Platform | Affymetrix, Illumina [2493963] (imputed) |
| CNV | N |
| Mapped trait | uric acid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004761 |
| Study accession | GCST000418 |
| PubMed ID | 21886157 |
| Journal | Nature |
| Link | www.ncbi.nlm.nih.gov/pubmed/21886157 |
| Study | Human metabolic individuality in biomedical and pharmaceutical research. |
| Disease/Trait | Metabolic traits |
| Initial sample | 2,820 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-T |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.399 |
| P value | 6E-53 |
| Pvalue mlog | 52.2218487496163 |
| P value text | (glucose/mannose + 54 other traits) |
| Or beta | 0.101 |
| %95 Ci | [NR] unit increase |
| Platform | Affymetrix, Illumina [534665] |
| CNV | N |
| Mapped trait | metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004725 |
| Study accession | GCST001217 |
| PubMed ID | 22399527 |
| Journal | Circ Cardiovasc Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/22399527 |
| Study | Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. |
| Disease/Trait | Metabolic syndrome |
| Initial sample | 2,637 European ancestry cases, 7,927 European ancestry controls |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-A |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.36 |
| P value | 6E-20 |
| Pvalue mlog | 19.2218487496163 |
| P value text | (TG) |
| Or beta | 0.13 |
| %95 Ci | [NR] mmol/l increase |
| Platform | Illumina [1257079] (imputed) |
| CNV | N |
| Mapped trait | metabolic syndrome |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000195 |
| Study accession | GCST001436 |
| PubMed ID | 20081858 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20081858 |
| Study | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. |
| Disease/Trait | Fasting glucose-related traits |
| Initial sample | up to 46,186 European ancestry individuals |
| Replication sample | up to 76,558 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-C |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.62 |
| P value | 6E-38 |
| Pvalue mlog | 37.2218487496163 |
| P value text | (FPG) |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | fasting blood glucose measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004465 |
| Study accession | GCST000568 |
| PubMed ID | 20081858 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20081858 |
| Study | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. |
| Disease/Trait | Fasting insulin-related traits |
| Initial sample | up to 38,238 European ancestry individuals |
| Replication sample | up to 62,264 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-C |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.62 |
| P value | 4E-20 |
| Pvalue mlog | 19.397940008672 |
| P value text | (FI) |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | fasting blood insulin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004466 |
| Study accession | GCST000571 |
| PubMed ID | 20081858 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20081858 |
| Study | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. |
| Disease/Trait | Fasting insulin-related traits |
| Initial sample | up to 38,238 European ancestry individuals |
| Replication sample | up to 62,264 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-C |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.62 |
| P value | 3E-24 |
| Pvalue mlog | 23.5228787452803 |
| P value text | (HOMA-IR) |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | HOMA-IR, fasting blood insulin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004501, http://www.ebi.ac.uk/efo/EFO_0004466 |
| Study accession | GCST000571 |
| PubMed ID | 20081858 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20081858 |
| Study | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. |
| Disease/Trait | Fasting glucose-related traits |
| Initial sample | up to 46,186 European ancestry individuals |
| Replication sample | up to 76,558 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-C |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.62 |
| P value | 4E-20 |
| Pvalue mlog | 19.397940008672 |
| P value text | (FI) |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | fasting blood insulin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004466 |
| Study accession | GCST000568 |
| PubMed ID | 20081858 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20081858 |
| Study | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. |
| Disease/Trait | Fasting glucose-related traits |
| Initial sample | up to 46,186 European ancestry individuals |
| Replication sample | up to 76,558 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-C |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.62 |
| P value | 3E-24 |
| Pvalue mlog | 23.5228787452803 |
| P value text | (HOMA-IR) |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | HOMA-IR |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004501 |
| Study accession | GCST000568 |
| PubMed ID | 22581228 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/22581228 |
| Study | A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. |
| Disease/Trait | Fasting insulin-related traits (interaction with BMI) |
| Initial sample | Up to 51,750 European ancestry individuals |
| Replication sample | Up to 33,823 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-? |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.0000000003 |
| Pvalue mlog | 9.52287874528033 |
| P value text | |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 2400000] (imputed) |
| CNV | N |
| Mapped trait | body mass index, fasting blood insulin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004340, http://www.ebi.ac.uk/efo/EFO_0004466 |
| Study accession | GCST001526 |
| PubMed ID | 22581228 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/22581228 |
| Study | A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. |
| Disease/Trait | Fasting glucose-related traits (interaction with BMI) |
| Initial sample | Up to 58,074 European ancestry individuals |
| Replication sample | Up tp 38,422 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-? |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 4E-24 |
| Pvalue mlog | 23.397940008672 |
| P value text | |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 2400000] (imputed) |
| CNV | N |
| Mapped trait | body mass index, fasting blood glucose measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004340, http://www.ebi.ac.uk/efo/EFO_0004465 |
| Study accession | GCST001527 |
| 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 | Urate levels |
| Initial sample | 8,868 Japanese ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-T |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.57 |
| P value | 0.000005 |
| Pvalue mlog | 5.30102999566398 |
| P value text | |
| Or beta | 0.069 |
| %95 Ci | [0.040,0.098] unit increase |
| Platform | Illumina [561583] |
| CNV | N |
| Mapped trait | urate measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004531 |
| Study accession | GCST000581 |
| PubMed ID | 24068962 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/24068962 |
| Study | Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. |
| Disease/Trait | Calcium levels |
| Initial sample | 39,400 European ancestry individuals |
| Replication sample | Up to 21,679 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-T |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.42 |
| P value | 0.0000000001 |
| Pvalue mlog | 10 |
| P value text | |
| Or beta | 0.017 |
| %95 Ci | [0.016-0.018] unit increase |
| Platform | Affymetrix, Illumina [2500000] (imputed) |
| CNV | N |
| Mapped trait | calcium measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004838 |
| Study accession | GCST002201 |
| PubMed ID | 25187374 |
| Journal | Diabetes |
| Link | www.ncbi.nlm.nih.gov/pubmed/25187374 |
| Study | Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. |
| Disease/Trait | Fasting plasma glucose |
| Initial sample | 24,740 East Asian ancestry individuals |
| Replication sample | 21,345 East Asian ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-? |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.000000004 |
| Pvalue mlog | 8.39794000867203 |
| P value text | |
| Or beta | 0.052 |
| %95 Ci | [0.034-0.070] unit increase |
| Platform | Affymetrix, Illumina [up to 2315813] (imputed) |
| CNV | N |
| Mapped trait | fasting blood glucose measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004465 |
| Study accession | GCST002586 |
| PubMed ID | 23726366 |
| Journal | Am J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23726366 |
| Study | Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. |
| Disease/Trait | Triglycerides |
| Initial sample | 7,601 African American individuals, 3,335 Hispanic individuals |
| Replication sample | 7,138 African American individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-C |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.358 |
| P value | 0.000000007 |
| Pvalue mlog | 8.15490195998574 |
| P value text | (Hispanic) |
| Or beta | 0.0688 |
| %95 Ci | [NR] unit increase |
| Platform | Affymetrix [NR] |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST002044 |
| 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 obese individuals |
| Initial sample | 4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals |
| Replication sample | NA |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-C |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.6 |
| P value | 0.00000002 |
| Pvalue mlog | 7.69897000433601 |
| P value text | |
| Or beta | 0.085 |
| %95 Ci | [0.056-0.114] kg/m2 decrease |
| Platform | Affymetrix, Illumina [at least 188473] (imputed) |
| CNV | N |
| Mapped trait | obese body mass index status, urate measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007041, http://www.ebi.ac.uk/efo/EFO_0004531 |
| Study accession | GCST002828 |
| 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 | 27518370 |
| 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 | rs780094-C |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.59 |
| P value | 0.000006 |
| Pvalue mlog | 5.22184874961635 |
| P value text | |
| Or beta | 0.05 |
| %95 Ci | [0.028-0.072] 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 | 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 | Crohn__s disease |
| Initial sample | 5,956 European ancestry cases, 14,927 European ancestry controls |
| Replication sample | 14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-? |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 4E-22 |
| Pvalue mlog | 21.397940008672 |
| P value text | (EA) |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 9000000] (imputed) |
| CNV | N |
| Mapped trait | Crohn__s disease |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000384 |
| Study accession | GCST003044 |
| PubMed ID | 25282103 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/25282103 |
| Study | Defining the role of common variation in the genomic and biological architecture of adult human height. |
| Disease/Trait | Height |
| Initial sample | 253,288 European ancestry individuals |
| Replication sample | 80,067 European ancestry individuals |
| Region | 2p23.3 |
| Chromosome id | chr2 |
| Chromosome position | 27518370 |
| 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 | rs780094-T |
| SNPs | rs780094 |
| Merged | 0 |
| SNP id current | 780094 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.386 |
| P value | 0.000000000006 |
| Pvalue mlog | 11.2218487496163 |
| P value text | |
| Or beta | 0.021 |
| %95 Ci | [0.015-0.027] unit decrease |
| Platform | Affymetrix, Illumina, Perlegen [2550858] (imputed) |
| CNV | N |
| Mapped trait | body height |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
| Study accession | GCST002647 |
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