Human SNP ID | rs526231 |
---|---|
Human chromosome | chr5 |
Human SNP position | 103345680 |
Pig chromosome | chr2 |
Pig SNP position | 112994592 |
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 | 5q21.1 |
Chromosome id | chr5 |
Chromosome position | 103345680 |
Reported gene | PAM, EIF3KP1, GIN1, PPIP5K2, C5orf30 |
Mapped gene | C5orf30 - LOC105379197 |
Upstream gene id | 90355 |
Downstream gene id | 105379197 |
SNP gene ids | |
Upstream gene distance | 67020 |
Downstream gene distance | 86779 |
SNP risk allele | rs526231-C |
SNPs | rs526231 |
Merged | |
SNP id current | 526231 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | |
P value | 0.00000001 |
Pvalue mlog | 8 |
P value text | |
Or beta | 1.1494253 |
%95 Ci | [1.08-1.23] |
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 |