Human SNP ID | rs485499 |
---|---|
Human chromosome | chr3 |
Human SNP position | 160028076 |
Pig chromosome | chr13 |
Pig SNP position | 108090160 |
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 | 3q25.33 |
Chromosome id | chr3 |
Chromosome position | 160028076 |
Reported gene | IL12A |
Mapped gene | LINC01100, IL12A-AS1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 730109, 101928376 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs485499-T |
SNPs | rs485499 |
Merged | 0 |
SNP id current | 485499 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.57 |
P value | 0.0000000000000002 |
Pvalue mlog | 15.698970004336 |
P value text | |
Or beta | 1.38 |
%95 Ci | [1.28-1.50] |
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 | 3q25.33 |
Chromosome id | chr3 |
Chromosome position | 160028076 |
Reported gene | IL12A, SCHIP1 |
Mapped gene | LINC01100, IL12A-AS1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 730109, 101928376 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs485499-T |
SNPs | rs485499 |
Merged | 0 |
SNP id current | 485499 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.6 |
P value | 1E-23 |
Pvalue mlog | 23 |
P value text | |
Or beta | 1.4084507 |
%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 |