rs34719006
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs34719006(A;A) |
| Make rs34719006(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 18 |
| Position | 57706561 |
| Gene | ATP8B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34719006 |
| dbSNP (classic) | rs34719006 |
| ClinGen | rs34719006 |
| ebi | rs34719006 |
| HLI | rs34719006 |
| Exac | rs34719006 |
| Gnomad | rs34719006 |
| Varsome | rs34719006 |
| LitVar | rs34719006 |
| Map | rs34719006 |
| PheGenI | rs34719006 |
| Biobank | rs34719006 |
| 1000 genomes | rs34719006 |
| hgdp | rs34719006 |
| ensembl | rs34719006 |
| geneview | rs34719006 |
| scholar | rs34719006 |
| rs34719006 | |
| pharmgkb | rs34719006 |
| gwascentral | rs34719006 |
| openSNP | rs34719006 |
| 23andMe | rs34719006 |
| SNPshot | rs34719006 |
| SNPdbe | rs34719006 |
| MSV3d | rs34719006 |
| GWAS Ctlg | rs34719006 |
| Merged from | Rs121909102 |
| GMAF | 0.003673 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34719006(A;A) rs34719006(T;T) |
| Alt | rs34719006(A;A) rs34719006(T;T) |
| Reference | Rs34719006(G;G) |
| Significance | Pathogenic |
| Disease | Cholestasis of pregnancy not specified |
| Variation | info |
| Gene | ATP8B1 |
| CLNDBN | Cholestasis of pregnancy not specified |
| Reversed | 1 |
| HGVS | NC_000018.9:g.55373793C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007694.4, RCV000177233.1, |
