Human SNP ID | rs6421571 |
---|---|
Human chromosome | chr11 |
Human SNP position | 118873063 |
Pig chromosome | chr9 |
Pig SNP position | 51162934 |
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 | 11q23.3 |
Chromosome id | chr11 |
Chromosome position | 118873063 |
Reported gene | CXCR5 |
Mapped gene | DDX6 - CXCR5 |
Upstream gene id | 1656 |
Downstream gene id | 643 |
SNP gene ids | |
Upstream gene distance | 81800 |
Downstream gene distance | 10703 |
SNP risk allele | rs6421571-C |
SNPs | rs6421571 |
Merged | 0 |
SNP id current | 6421571 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | 0.81 |
P value | 0.000000000003 |
Pvalue mlog | 11.5228787452803 |
P value text | |
Or beta | 1.37 |
%95 Ci | [1.25-1.50] |
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 | 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 | 11q23.3 |
Chromosome id | chr11 |
Chromosome position | 118873063 |
Reported gene | CXCR5, DDX6� |
Mapped gene | DDX6 - CXCR5 |
Upstream gene id | 1656 |
Downstream gene id | 643 |
SNP gene ids | |
Upstream gene distance | 81800 |
Downstream gene distance | 10703 |
SNP risk allele | rs6421571-C |
SNPs | rs6421571 |
Merged | 0 |
SNP id current | 6421571 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | 0.8 |
P value | 0.0000000000002 |
Pvalue mlog | 12.698970004336 |
P value text | |
Or beta | 1.39 |
%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 |