Human SNP ID | rs11887534 |
---|---|
Human chromosome | chr2 |
Human SNP position | 43839108 |
Pig chromosome | chr3 |
Pig SNP position | 102768216 |
PubMed ID | 17632509 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/17632509 |
Study | A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. |
Disease/Trait | Gallstones |
Initial sample | 280 European ancestry cases, 360 European ancestry controls |
Replication sample | 1,833 European ancestry cases, 1,035 European ancestry controls, 167 Hispanic cases, 167 Hispanic controls |
Region | 2p21 |
Chromosome id | chr2 |
Chromosome position | 43839108 |
Reported gene | ABCG8 |
Mapped gene | ABCG8 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 64241 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs11887534-C |
SNPs | rs11887534 |
Merged | 0 |
SNP id current | 11887534 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.1 |
P value | 0.00000000000001 |
Pvalue mlog | 14 |
P value text | |
Or beta | 2.2 |
%95 Ci | [1.80-2.60] |
Platform | Affymetrix [382492] |
CNV | N |
Mapped trait | gallstones |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004210 |
Study accession | GCST000055 |