rs2287616
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs2287616(C;C) |
| Make rs2287616(C;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 2 |
| Position | 168990902 |
| Gene | ABCB11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2287616 |
| dbSNP (classic) | rs2287616 |
| ClinGen | rs2287616 |
| ebi | rs2287616 |
| HLI | rs2287616 |
| Exac | rs2287616 |
| Gnomad | rs2287616 |
| Varsome | rs2287616 |
| LitVar | rs2287616 |
| Map | rs2287616 |
| PheGenI | rs2287616 |
| Biobank | rs2287616 |
| 1000 genomes | rs2287616 |
| hgdp | rs2287616 |
| ensembl | rs2287616 |
| geneview | rs2287616 |
| scholar | rs2287616 |
| rs2287616 | |
| pharmgkb | rs2287616 |
| gwascentral | rs2287616 |
| openSNP | rs2287616 |
| 23andMe | rs2287616 |
| SNPshot | rs2287616 |
| SNPdbe | rs2287616 |
| MSV3d | rs2287616 |
| GWAS Ctlg | rs2287616 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 27293027
] Role of polymorphic bile salt export pump (BSEP, ABCB11) transporters in anti-tuberculosis drug-induced liver injury in a Chinese cohort.
| ClinVar | |
|---|---|
| Risk | rs2287616(C;C) |
| Alt | rs2287616(C;C) |
| Reference | Rs2287616(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Familial Intrahepatic Cholestasis |
| Variation | info |
| Gene | ABCB11 |
| CLNDBN | not specified Familial Intrahepatic Cholestasis |
| Reversed | 1 |
| HGVS | NC_000002.11:g.169847412A>G |
| CLNSRC | |
| CLNACC | RCV000245546.2, RCV000346202.1, |
