rs183501729
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs183501729(C;T) |
| Make rs183501729(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 21196975 |
| Gene | SLCO1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs183501729 |
| dbSNP (classic) | rs183501729 |
| ClinGen | rs183501729 |
| ebi | rs183501729 |
| HLI | rs183501729 |
| Exac | rs183501729 |
| Gnomad | rs183501729 |
| Varsome | rs183501729 |
| LitVar | rs183501729 |
| Map | rs183501729 |
| PheGenI | rs183501729 |
| Biobank | rs183501729 |
| 1000 genomes | rs183501729 |
| hgdp | rs183501729 |
| ensembl | rs183501729 |
| geneview | rs183501729 |
| scholar | rs183501729 |
| rs183501729 | |
| pharmgkb | rs183501729 |
| gwascentral | rs183501729 |
| openSNP | rs183501729 |
| 23andMe | rs183501729 |
| SNPshot | rs183501729 |
| SNPdbe | rs183501729 |
| MSV3d | rs183501729 |
| GWAS Ctlg | rs183501729 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs183501729(T;T) |
| Alt | rs183501729(T;T) |
| Reference | Rs183501729(C;C) |
| Significance | Pathogenic |
| Disease | Rotor syndrome |
| Variation | info |
| Gene | SLCO1B1 |
| CLNDBN | Rotor syndrome |
| Reversed | 0 |
| HGVS | NC_000012.11:g.21349909C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023392.2, |
