Human SNP ID | rs2293370 |
---|---|
Human chromosome | chr3 |
Human SNP position | 119501087 |
Pig chromosome | chr13 |
Pig SNP position | 150048923 |
PubMed ID | 21399635 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21399635 |
Study | Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. |
Disease/Trait | Primary biliary cirrhosis |
Initial sample | 1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al) |
Replication sample | 620 European ancestry cases, 2,514 European ancestry controls |
Region | 3q13.33 |
Chromosome id | chr3 |
Chromosome position | 119501087 |
Reported gene | CD80 |
Mapped gene | TIMMDC1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 51300 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2293370-G |
SNPs | rs2293370 |
Merged | 0 |
SNP id current | 2293370 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.8 |
P value | 0.00000000003 |
Pvalue mlog | 10.5228787452803 |
P value text | |
Or beta | 1.35 |
%95 Ci | [1.23-1.47] |
Platform | Illumina [507467] |
CNV | N |
Mapped trait | biliary liver cirrhosis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004267 |
Study accession | GCST001010 |
PubMed ID | 21833088 |
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/21833088 |
Study | Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. |
Disease/Trait | Multiple sclerosis |
Initial sample | 9,772 European ancestry cases, 16,849 European ancestry controls |
Replication sample | 4,218 European ancestry cases, 7,296 European ancestry controls |
Region | 3q13.33 |
Chromosome id | chr3 |
Chromosome position | 119501087 |
Reported gene | C3orf1, TMEM39A |
Mapped gene | TIMMDC1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 51300 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2293370-G |
SNPs | rs2293370 |
Merged | 0 |
SNP id current | 2293370 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000000003 |
Pvalue mlog | 8.52287874528033 |
P value text | |
Or beta | 1.13 |
%95 Ci | [1.11-1.15] |
Platform | Illumina [465434] |
CNV | N |
Mapped trait | multiple sclerosis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003885 |
Study accession | GCST001198 |
PubMed ID | 23000144 |
Journal | Am J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23000144 |
Study | Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. |
Disease/Trait | Primary biliary cirrhosis |
Initial sample | 487 Japanese ancestry cases, 476 Japanese ancestry controls |
Replication sample | 787 Japanese ancestry cases, 615 Japanese ancestry controls |
Region | 3q13.33 |
Chromosome id | chr3 |
Chromosome position | 119501087 |
Reported gene | CD80 |
Mapped gene | TIMMDC1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 51300 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2293370-C |
SNPs | rs2293370 |
Merged | 0 |
SNP id current | 2293370 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000000003 |
Pvalue mlog | 8.52287874528033 |
P value text | |
Or beta | 1.48 |
%95 Ci | [1.29-1.68] |
Platform | Affymetrix [421245] |
CNV | N |
Mapped trait | biliary liver cirrhosis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004267 |
Study accession | GCST001685 |
PubMed ID | 26394269 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/26394269 |
Study | International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. |
Disease/Trait | Primary biliary cirrhosis |
Initial sample | 2,764 European ancestry cases, 10,475 European ancestry controls |
Replication sample | 3,716 European ancestry cases, 4,261 European ancestry controls |
Region | 3q13.33 |
Chromosome id | chr3 |
Chromosome position | 119501087 |
Reported gene | TMEM39A, CD80 |
Mapped gene | TIMMDC1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 51300 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2293370-G |
SNPs | rs2293370 |
Merged | 0 |
SNP id current | 2293370 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.86 |
P value | 0.000000000000004 |
Pvalue mlog | 14.397940008672 |
P value text | |
Or beta | 1.42 |
%95 Ci | NR |
Platform | Illumina [1143634] (imputed) |
CNV | N |
Mapped trait | primary biliary cirrhosis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_1001486 |
Study accession | GCST003129 |