rs1202283
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs1202283(A;A) |
| Make rs1202283(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 87452976 |
| Gene | ABCB4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1202283 |
| dbSNP (classic) | rs1202283 |
| ClinGen | rs1202283 |
| ebi | rs1202283 |
| HLI | rs1202283 |
| Exac | rs1202283 |
| Gnomad | rs1202283 |
| Varsome | rs1202283 |
| LitVar | rs1202283 |
| Map | rs1202283 |
| PheGenI | rs1202283 |
| Biobank | rs1202283 |
| 1000 genomes | rs1202283 |
| hgdp | rs1202283 |
| ensembl | rs1202283 |
| geneview | rs1202283 |
| scholar | rs1202283 |
| rs1202283 | |
| pharmgkb | rs1202283 |
| gwascentral | rs1202283 |
| openSNP | rs1202283 |
| 23andMe | rs1202283 |
| SNPshot | rs1202283 |
| SNPdbe | rs1202283 |
| MSV3d | rs1202283 |
| GWAS Ctlg | rs1202283 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 27158408
] Prevalence of ABCB4 polymorphisms in gallstone disease in han-Chinese population.
| ClinVar | |
|---|---|
| Risk | rs1202283(A;A) |
| Alt | rs1202283(A;A) |
| Reference | Rs1202283(G;G) |
| 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 | 0 |
| HGVS | NC_000007.13:g.87082292G>A |
| CLNSRC | |
| CLNACC | RCV000179313.3, RCV000288953.1, RCV000346207.1, |
