rs3745516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 2 | Increased risk of developing primary biliary cirrhosis |
(A;G) | 1.5 | Slightly increased risk of developing primary biliary cirrhosis |
(G;G) | 1 | Normal risk of developing primary biliary cirrhosis |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 50423485 |
Gene | SPIB |
is a | snp |
is | mentioned by |
dbSNP | rs3745516 |
dbSNP (classic) | rs3745516 |
ClinGen | rs3745516 |
ebi | rs3745516 |
HLI | rs3745516 |
Exac | rs3745516 |
Gnomad | rs3745516 |
Varsome | rs3745516 |
LitVar | rs3745516 |
Map | rs3745516 |
PheGenI | rs3745516 |
Biobank | rs3745516 |
1000 genomes | rs3745516 |
hgdp | rs3745516 |
ensembl | rs3745516 |
geneview | rs3745516 |
scholar | rs3745516 |
rs3745516 | |
pharmgkb | rs3745516 |
gwascentral | rs3745516 |
openSNP | rs3745516 |
23andMe | rs3745516 |
SNPshot | rs3745516 |
SNPdbe | rs3745516 |
MSV3d | rs3745516 |
GWAS Ctlg | rs3745516 |
GMAF | 0.4968 |
Max Magnitude | 2 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 20639880] |
Trait | Primary biliary cirrhosis |
Title | Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis |
Risk Allele | A |
P-val | 8E-11 |
Odds Ratio | 1.46 [NR] |
Each A allele of this SNP in the SPIB gene is associated with 1.46 times higher odds of primary biliary cirrhosis. [PMID 20639880]
GWAS snp | |
---|---|
PMID | [PMID 21399635] |
Trait | |
Title | Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis |
Risk Allele | A |
P-val | 2E-13 |
Odds Ratio | 1.3800 [1.32-1.44] |
[PMID 20639879] Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.
[PMID 21506939] Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort.