Human SNP ID | rs538147 |
---|---|
Human chromosome | chr11 |
Human SNP position | 64362250 |
Pig chromosome | chr2 |
Pig SNP position | 7016175 |
PubMed ID | 22019778 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22019778 |
Study | Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. |
Disease/Trait | Leprosy |
Initial sample | 706 Han Chinese ancestry cases, 5,581 Han Chinese ancestry controls |
Replication sample | 3,301 Han Chinese ancestry cases, 5,299 Han Chinese ancestry controls |
Region | 11q13.1 |
Chromosome id | chr11 |
Chromosome position | 64362250 |
Reported gene | RPS6KA4 |
Mapped gene | RPS6KA4 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8986 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs538147-A |
SNPs | rs538147 |
Merged | 0 |
SNP id current | 538147 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.23 |
P value | 0.000007 |
Pvalue mlog | 5.15490195998574 |
P value text | |
Or beta | 1.17 |
%95 Ci | [1.09-1.25] |
Platform | NR [1701673] (imputed) |
CNV | N |
Mapped trait | leprosy |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001054 |
Study accession | GCST001292 |
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 | 11q13.1 |
Chromosome id | chr11 |
Chromosome position | 64362250 |
Reported gene | RPS6KA4 |
Mapped gene | RPS6KA4 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8986 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs538147-G |
SNPs | rs538147 |
Merged | 0 |
SNP id current | 538147 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.61 |
P value | 0.0000000002 |
Pvalue mlog | 9.69897000433601 |
P value text | |
Or beta | 1.23 |
%95 Ci | [1.15-1.31] |
Platform | Illumina [507467] |
CNV | N |
Mapped trait | biliary liver cirrhosis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004267 |
Study accession | GCST001010 |