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.
