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SNP Detail For rs2074356
1.Mapping Information
| Human SNP ID | rs2074356 |
|---|---|
| Human chromosome | chr12 |
| Human SNP position | 112207597 |
| Pig chromosome | chr14 |
| Pig SNP position | 41996890 |
2.Annotation Information
| PubMed ID | 21909109 |
|---|---|
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21909109 |
| Study | Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. |
| Disease/Trait | HDL cholesterol |
| Initial sample | 12,545 Korean ancestry individuals |
| Replication sample | Up to 30,395 East Asian ancestry individuals |
| Region | 12q24.13 |
| Chromosome id | chr12 |
| Chromosome position | 112207597 |
| Reported gene | C12orf51 |
| Mapped gene | HECTD4 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 283450 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2074356-T |
| SNPs | rs2074356 |
| Merged | 0 |
| SNP id current | 2074356 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.15 |
| P value | 7E-37 |
| Pvalue mlog | 36.1549019599857 |
| P value text | |
| Or beta | 0.035 |
| %95 Ci | [0.030-0.040] mg/dL decrease |
| Platform | Affymetrix [~ 2200000] (imputed) |
| CNV | N |
| Mapped trait | high density lipoprotein cholesterol measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004612 |
| Study accession | GCST001237 |
| PubMed ID | 21909109 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21909109 |
| Study | Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. |
| Disease/Trait | Gamma glutamyl transpeptidase |
| Initial sample | 12,545 Korean ancestry individuals |
| Replication sample | Up to 30,395 East Asian ancestry individuals |
| Region | 12q24.13 |
| Chromosome id | chr12 |
| Chromosome position | 112207597 |
| Reported gene | C12orf51 |
| Mapped gene | HECTD4 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 283450 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2074356-T |
| SNPs | rs2074356 |
| Merged | 0 |
| SNP id current | 2074356 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.15 |
| P value | 3E-126 |
| Pvalue mlog | 125.52287874528 |
| P value text | |
| Or beta | 0.0161 |
| %95 Ci | [0.015-0.017] IU/L increase |
| Platform | Affymetrix [~ 2200000] (imputed) |
| CNV | N |
| Mapped trait | serum gamma-glutamyl transferase measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004532 |
| Study accession | GCST001234 |
| PubMed ID | 19396169 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19396169 |
| Study | A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. |
| Disease/Trait | Biomedical quantitative traits |
| Initial sample | 8,842 Korean ancestry individuals |
| Replication sample | 7,861 Korean ancestry individuals |
| Region | 12q24.13 |
| Chromosome id | chr12 |
| Chromosome position | 112207597 |
| Reported gene | C12orf51 |
| Mapped gene | HECTD4 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 283450 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2074356-T |
| SNPs | rs2074356 |
| Merged | 0 |
| SNP id current | 2074356 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.15 |
| P value | 0.000000000008 |
| Pvalue mlog | 11.096910013008 |
| P value text | (waist-hip ratio) |
| Or beta | 0.01 |
| %95 Ci | [0.004-0.008] decrease |
| Platform | Affymetrix [2156535] (imputed) |
| CNV | N |
| Mapped trait | waist-hip ratio |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004343 |
| Study accession | GCST000381 |
| PubMed ID | 21270382 |
| Journal | Am J Clin Nutr |
| Link | www.ncbi.nlm.nih.gov/pubmed/21270382 |
| Study | Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. |
| Disease/Trait | Alcohol consumption |
| Initial sample | 1,721 Korean ancestry male individuals |
| Replication sample | 1,113 Korean ancestry male individuals |
| Region | 12q24.13 |
| Chromosome id | chr12 |
| Chromosome position | 112207597 |
| Reported gene | C12orf51, ALDH2 |
| Mapped gene | HECTD4 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 283450 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2074356-T |
| SNPs | rs2074356 |
| Merged | 0 |
| SNP id current | 2074356 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.15 |
| P value | 9E-59 |
| Pvalue mlog | 58.0457574905606 |
| P value text | |
| Or beta | 1.06 |
| %95 Ci | [0.94-1.18] unit decrease |
| Platform | Affymetrix [315914] |
| CNV | N |
| Mapped trait | alcohol drinking |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004329 |
| Study accession | GCST000954 |
| PubMed ID | 21642993 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21642993 |
| Study | Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. |
| Disease/Trait | Esophageal cancer |
| Initial sample | 2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls |
| Replication sample | 3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls |
| Region | 12q24.13 |
| Chromosome id | chr12 |
| Chromosome position | 112207597 |
| Reported gene | C12orf51 |
| Mapped gene | HECTD4 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 283450 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2074356-T |
| SNPs | rs2074356 |
| Merged | 0 |
| SNP id current | 2074356 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.13 |
| P value | 2E-31 |
| Pvalue mlog | 30.698970004336 |
| P value text | |
| Or beta | 1.56 |
| %95 Ci | [1.45-1.68] |
| Platform | Affymetrix [666141] |
| CNV | N |
| Mapped trait | esophageal carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0002916 |
| Study accession | GCST001089 |
| PubMed ID | 22797727 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/22797727 |
| Study | Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. |
| Disease/Trait | Renal function-related traits (BUN) |
| Initial sample | 39,717 East Asian ancestry individuals |
| Replication sample | 17,461 East Asian ancestry individuals |
| Region | 12q24.13 |
| Chromosome id | chr12 |
| Chromosome position | 112207597 |
| Reported gene | C12orf51 |
| Mapped gene | HECTD4 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 283450 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2074356-A |
| SNPs | rs2074356 |
| Merged | 0 |
| SNP id current | 2074356 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.23 |
| P value | 0.000000002 |
| Pvalue mlog | 8.69897000433601 |
| P value text | |
| Or beta | 0.0064 |
| %95 Ci | [0.0042-0.0086] mg/dl increase |
| Platform | Affymetrix, Illumina [2281523] (imputed) |
| CNV | N |
| Mapped trait | renal system measurement, blood urea nitrogen measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004742, http://www.ebi.ac.uk/efo/EFO_0004741 |
| Study accession | GCST001610 |
| PubMed ID | 23575436 |
| Journal | J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23575436 |
| Study | New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population. |
| Disease/Trait | Glycemic traits |
| Initial sample | 7,696 Korean ancestry individuals |
| Replication sample | 6,536 Korean ancestry individuals |
| Region | 12q24.13 |
| Chromosome id | chr12 |
| Chromosome position | 112207597 |
| Reported gene | C12orf51 |
| Mapped gene | HECTD4 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 283450 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2074356-T |
| SNPs | rs2074356 |
| Merged | 0 |
| SNP id current | 2074356 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | |
| P value | 0.00000000000006 |
| Pvalue mlog | 13.2218487496163 |
| P value text | (FPG) |
| Or beta | 0.061 |
| %95 Ci | [0.045-0.077] mmol-1 decrease |
| Platform | Affymetrix [357789] |
| CNV | N |
| Mapped trait | type II diabetes mellitus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
| Study accession | GCST001965 |
| PubMed ID | 23575436 |
| Journal | J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23575436 |
| Study | New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population. |
| Disease/Trait | Glycemic traits |
| Initial sample | 7,696 Korean ancestry individuals |
| Replication sample | 6,536 Korean ancestry individuals |
| Region | 12q24.13 |
| Chromosome id | chr12 |
| Chromosome position | 112207597 |
| Reported gene | C12orf51 |
| Mapped gene | HECTD4 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 283450 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2074356-T |
| SNPs | rs2074356 |
| Merged | 0 |
| SNP id current | 2074356 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | |
| P value | 0.0000000000000001 |
| Pvalue mlog | 16 |
| P value text | (1-hPG) |
| Or beta | 0.321 |
| %95 Ci | [0.24-0.40] mmol-1 decrease |
| Platform | Affymetrix [357789] |
| CNV | N |
| Mapped trait | type II diabetes mellitus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
| Study accession | GCST001965 |
| PubMed ID | 23575436 |
| Journal | J Hum Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23575436 |
| Study | New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population. |
| Disease/Trait | Glycemic traits |
| Initial sample | 7,696 Korean ancestry individuals |
| Replication sample | 6,536 Korean ancestry individuals |
| Region | 12q24.13 |
| Chromosome id | chr12 |
| Chromosome position | 112207597 |
| Reported gene | C12orf51 |
| Mapped gene | HECTD4 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 283450 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2074356-T |
| SNPs | rs2074356 |
| Merged | 0 |
| SNP id current | 2074356 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | |
| P value | 0.000000006 |
| Pvalue mlog | 8.22184874961635 |
| P value text | (2-hPG) |
| Or beta | 0.165 |
| %95 Ci | [0.11-0.22] mmol-1 decrease |
| Platform | Affymetrix [357789] |
| CNV | N |
| Mapped trait | type II diabetes mellitus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
| Study accession | GCST001965 |
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and Xi'an University of Technology ©2014-2017 All Rights Reserved.
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