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SNP Detail For rs1801274
1.Mapping Information
| Human SNP ID | rs1801274 |
|---|---|
| Human chromosome | chr1 |
| Human SNP position | 161509955 |
| Pig chromosome | chr4 |
| Pig SNP position | 96895359 |
2.Annotation Information
| PubMed ID | 22081228 |
|---|---|
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/22081228 |
| Study | Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. |
| Disease/Trait | Kawasaki disease |
| Initial sample | 405 European ancestry cases, 6,252 European ancestry controls |
| Replication sample | 605 European ancestry cases and 1,349 European ancestry controls from 740 families, 135 cases and 270 controls from 135 families, 1,028 East Asian ancestry cases, 1,512 East Asian ancestry controls |
| Region | 1q23.3 |
| Chromosome id | chr1 |
| Chromosome position | 161509955 |
| Reported gene | FCGR2A |
| Mapped gene | FCGR2A |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2212 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801274-A |
| SNPs | rs1801274 |
| Merged | 0 |
| SNP id current | 1801274 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.47 |
| P value | 0.00000000007 |
| Pvalue mlog | 10.1549019599857 |
| P value text | |
| Or beta | 1.32 |
| %95 Ci | [1.22-1.44] |
| Platform | Illumina [494236] |
| CNV | N |
| Mapped trait | mucocutaneous lymph node syndrome |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004246 |
| Study accession | GCST001322 |
| PubMed ID | 21297633 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21297633 |
| Study | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. |
| Disease/Trait | Ulcerative colitis |
| Initial sample | 6,687 European ancestry cases, 19,718 European ancestry controls |
| Replication sample | 9,628 European ancestry cases, 12,917 European ancestry controls |
| Region | 1q23.3 |
| Chromosome id | chr1 |
| Chromosome position | 161509955 |
| Reported gene | FCGR2A, FCGR2B, HSPA6 |
| Mapped gene | FCGR2A |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2212 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801274-A |
| SNPs | rs1801274 |
| Merged | 0 |
| SNP id current | 1801274 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.51 |
| P value | 2E-20 |
| Pvalue mlog | 19.698970004336 |
| P value text | |
| Or beta | 1.21 |
| %95 Ci | [1.16-1.26] |
| Platform | Affymetrix, Illumina [~ 1100000] (imputed) |
| CNV | N |
| Mapped trait | ulcerative colitis |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000729 |
| Study accession | GCST000964 |
| PubMed ID | 19915573 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19915573 |
| Study | A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. |
| Disease/Trait | Ulcerative colitis |
| Initial sample | 376 Japanese ancestry cases, 934 Japanese ancestry controls |
| Replication sample | 376 Japanese ancestry cases, 1,097 Japanese ancestry controls |
| Region | 1q23.3 |
| Chromosome id | chr1 |
| Chromosome position | 161509955 |
| Reported gene | FCGR2A |
| Mapped gene | FCGR2A |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2212 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801274-? |
| SNPs | rs1801274 |
| Merged | 0 |
| SNP id current | 1801274 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.78 |
| P value | 0.000000000002 |
| Pvalue mlog | 11.698970004336 |
| P value text | |
| Or beta | 1.59 |
| %95 Ci | [1.39-1.82] |
| Platform | Illumina [513923] |
| CNV | N |
| Mapped trait | ulcerative colitis |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000729 |
| Study accession | GCST000529 |
| PubMed ID | 24871463 |
| Journal | Genes Immun |
| Link | www.ncbi.nlm.nih.gov/pubmed/24871463 |
| Study | GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. |
| Disease/Trait | Systemic lupus erythematosus |
| Initial sample | 725 European ancestry cases, 2,438 European ancestry controls |
| Replication sample | NA |
| Region | 1q23.3 |
| Chromosome id | chr1 |
| Chromosome position | 161509955 |
| Reported gene | FCGR2A |
| Mapped gene | FCGR2A |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2212 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801274-? |
| SNPs | rs1801274 |
| Merged | 0 |
| SNP id current | 1801274 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.000009 |
| Pvalue mlog | 5.04575749056067 |
| P value text | |
| Or beta | |
| %95 Ci | |
| Platform | Illumina [NR] |
| CNV | N |
| Mapped trait | rheumatoid arthritis |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000685 |
| Study accession | GCST002463 |
| PubMed ID | 26502338 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/26502338 |
| Study | Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. |
| Disease/Trait | Systemic lupus erythematosus |
| Initial sample | 5,201 European ancestry cases, 9,066 European ancestry controls |
| Replication sample | 2,018 European ancestry cases, 6,925 European ancestry controls |
| Region | 1q23.3 |
| Chromosome id | chr1 |
| Chromosome position | 161509955 |
| Reported gene | FCGR2A, FCGR2B, FCGR3B |
| Mapped gene | FCGR2A |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2212 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801274-C |
| SNPs | rs1801274 |
| Merged | 0 |
| SNP id current | 1801274 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | |
| P value | 0.000000000001 |
| Pvalue mlog | 12 |
| P value text | |
| Or beta | 1.16 |
| %95 Ci | [1.11鈥?.21] |
| Platform | Illumina [644674] |
| CNV | N |
| Mapped trait | systemic lupus erythematosus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0002690 |
| Study accession | GCST003155 |
| PubMed ID | 23128233 |
| Journal | Nature |
| Link | www.ncbi.nlm.nih.gov/pubmed/23128233 |
| Study | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. |
| Disease/Trait | Inflammatory bowel disease |
| Initial sample | 12,924 European ancestry cases, 21,442 European ancestry controls |
| Replication sample | 25,683 European ancestry cases, 17,015 European ancestry controls |
| Region | 1q23.3 |
| Chromosome id | chr1 |
| Chromosome position | 161509955 |
| Reported gene | FCGR2A, FCGR3A, FCGR2B, HSPA6, FCGR3B, FCRLA |
| Mapped gene | FCGR2A |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2212 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801274-A |
| SNPs | rs1801274 |
| Merged | 0 |
| SNP id current | 1801274 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.509 |
| P value | 2E-38 |
| Pvalue mlog | 37.698970004336 |
| P value text | |
| Or beta | 1.124 |
| %95 Ci | [1.092-1.157] |
| Platform | Affymetrix, Illumina [1230000] (imputed) |
| CNV | N |
| Mapped trait | inflammatory bowel disease |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003767 |
| Study accession | GCST001725 |
| 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 | Ulcerative colitis |
| Initial sample | 6,968 European ancestry cases, 20,464 European ancestry controls |
| Replication sample | 10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls |
| Region | 1q23.3 |
| Chromosome id | chr1 |
| Chromosome position | 161509955 |
| Reported gene | NR |
| Mapped gene | FCGR2A |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2212 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801274-A |
| SNPs | rs1801274 |
| Merged | 0 |
| SNP id current | 1801274 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.5 |
| P value | 1E-41 |
| Pvalue mlog | 41 |
| P value text | (EA) |
| Or beta | 1.1863672 |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 9000000] (imputed) |
| CNV | N |
| Mapped trait | ulcerative colitis |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000729 |
| Study accession | GCST003045 |
| 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 | 1q23.3 |
| Chromosome id | chr1 |
| Chromosome position | 161509955 |
| Reported gene | NR |
| Mapped gene | FCGR2A |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2212 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801274-G |
| SNPs | rs1801274 |
| Merged | 0 |
| SNP id current | 1801274 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.5 |
| P value | 0.00000000009 |
| Pvalue mlog | 10.0457574905606 |
| P value text | (EA) |
| Or beta | 1.0816648 |
| %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 | 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 | 1q23.3 |
| Chromosome id | chr1 |
| Chromosome position | 161509955 |
| Reported gene | NR |
| Mapped gene | FCGR2A |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 2212 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801274-A |
| SNPs | rs1801274 |
| Merged | 0 |
| SNP id current | 1801274 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.5 |
| P value | 9E-36 |
| Pvalue mlog | 35.0457574905606 |
| P value text | (EA) |
| Or beta | 1.1334659 |
| %95 Ci | |
| 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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and Xi'an University of Technology ©2014-2017 All Rights Reserved.
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