rs497692
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs497692(A;G) |
| Make rs497692(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 168932506 |
| Gene | ABCB11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs497692 |
| dbSNP (classic) | rs497692 |
| ClinGen | rs497692 |
| ebi | rs497692 |
| HLI | rs497692 |
| Exac | rs497692 |
| Gnomad | rs497692 |
| Varsome | rs497692 |
| LitVar | rs497692 |
| Map | rs497692 |
| PheGenI | rs497692 |
| Biobank | rs497692 |
| 1000 genomes | rs497692 |
| hgdp | rs497692 |
| ensembl | rs497692 |
| geneview | rs497692 |
| scholar | rs497692 |
| rs497692 | |
| pharmgkb | rs497692 |
| gwascentral | rs497692 |
| openSNP | rs497692 |
| 23andMe | rs497692 |
| SNPshot | rs497692 |
| SNPdbe | rs497692 |
| MSV3d | rs497692 |
| GWAS Ctlg | rs497692 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 25323205] Variations of ABCB4 and ABCB11 genes are associated with primary intrahepatic stones
| ClinVar | |
|---|---|
| Risk | rs497692(G;G) |
| Alt | rs497692(G;G) |
| Reference | Rs497692(A;A) |
| 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.169789016T>C |
| CLNSRC | |
| CLNACC | RCV000246223.3, RCV000324953.1, |
