rs72547505
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs72547505(C;T) |
| Make rs72547505(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 103049423 |
| Gene | SLC10A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72547505 |
| dbSNP (classic) | rs72547505 |
| ClinGen | rs72547505 |
| ebi | rs72547505 |
| HLI | rs72547505 |
| Exac | rs72547505 |
| Gnomad | rs72547505 |
| Varsome | rs72547505 |
| LitVar | rs72547505 |
| Map | rs72547505 |
| PheGenI | rs72547505 |
| Biobank | rs72547505 |
| 1000 genomes | rs72547505 |
| hgdp | rs72547505 |
| ensembl | rs72547505 |
| geneview | rs72547505 |
| scholar | rs72547505 |
| rs72547505 | |
| pharmgkb | rs72547505 |
| gwascentral | rs72547505 |
| openSNP | rs72547505 |
| 23andMe | rs72547505 |
| SNPshot | rs72547505 |
| SNPdbe | rs72547505 |
| MSV3d | rs72547505 |
| GWAS Ctlg | rs72547505 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72547505(A;A) rs72547505(T;T) |
| Alt | rs72547505(A;A) rs72547505(T;T) |
| Reference | Rs72547505(C;C) |
| Significance | Pathogenic |
| Disease | Bile acid malabsorption |
| Variation | info |
| Gene | SLC10A2 |
| CLNDBN | Bile acid malabsorption, primary |
| Reversed | 1 |
| HGVS | NC_000013.10:g.103701773G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008724.4, |
[PMID 19823678
] A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.
