rs2230028
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2230028(A;G) |
| Make rs2230028(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 87426860 |
| Gene | ABCB4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2230028 |
| dbSNP (classic) | rs2230028 |
| ClinGen | rs2230028 |
| ebi | rs2230028 |
| HLI | rs2230028 |
| Exac | rs2230028 |
| Gnomad | rs2230028 |
| Varsome | rs2230028 |
| LitVar | rs2230028 |
| Map | rs2230028 |
| PheGenI | rs2230028 |
| Biobank | rs2230028 |
| 1000 genomes | rs2230028 |
| hgdp | rs2230028 |
| ensembl | rs2230028 |
| geneview | rs2230028 |
| scholar | rs2230028 |
| rs2230028 | |
| pharmgkb | rs2230028 |
| gwascentral | rs2230028 |
| openSNP | rs2230028 |
| 23andMe | rs2230028 |
| SNPshot | rs2230028 |
| SNPdbe | rs2230028 |
| MSV3d | rs2230028 |
| GWAS Ctlg | rs2230028 |
| Max Magnitude | 0 |
[PMID 27158408
] Prevalence of ABCB4 polymorphisms in gallstone disease in han-Chinese population.
| ClinVar | |
|---|---|
| Risk | rs2230028(C;C) rs2230028(G;G) |
| Alt | rs2230028(C;C) rs2230028(G;G) |
| Reference | Rs2230028(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Familial Intrahepatic Cholestasis Progressive intrahepatic cholestasis |
| Variation | info |
| Gene | ABCB4 |
| CLNDBN | not specified Familial Intrahepatic Cholestasis Progressive intrahepatic cholestasis |
| Reversed | 1 |
| HGVS | NC_000007.13:g.87056176T>C |
| CLNSRC | |
| CLNACC | RCV000245480.3, RCV000295673.1, RCV000343693.1, |
