rs72549398
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs72549398(A;A) |
| Make rs72549398(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 168932442 |
| Gene | ABCB11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72549398 |
| dbSNP (classic) | rs72549398 |
| ClinGen | rs72549398 |
| ebi | rs72549398 |
| HLI | rs72549398 |
| Exac | rs72549398 |
| Gnomad | rs72549398 |
| Varsome | rs72549398 |
| LitVar | rs72549398 |
| Map | rs72549398 |
| PheGenI | rs72549398 |
| Biobank | rs72549398 |
| 1000 genomes | rs72549398 |
| hgdp | rs72549398 |
| ensembl | rs72549398 |
| geneview | rs72549398 |
| scholar | rs72549398 |
| rs72549398 | |
| pharmgkb | rs72549398 |
| gwascentral | rs72549398 |
| openSNP | rs72549398 |
| 23andMe | rs72549398 |
| SNPshot | rs72549398 |
| SNPdbe | rs72549398 |
| MSV3d | rs72549398 |
| GWAS Ctlg | rs72549398 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72549398(A;A) |
| Alt | rs72549398(A;A) |
| Reference | Rs72549398(G;G) |
| Significance | Pathogenic |
| Disease | Abnormal liver function tests during pregnancy Intrahepatic cholestasis Pruritus |
| Variation | info |
| Gene | ABCB11 |
| CLNDBN | Abnormal liver function tests during pregnancy Intrahepatic cholestasis Pruritus |
| Reversed | 0 |
| HGVS | NC_000002.11:g.169788952G>A |
| CLNSRC | |
| CLNACC | RCV000414921.1, |
