rs56199535
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs56199535(C;T) |
| Make rs56199535(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 99818820 |
| Gene | ABCC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56199535 |
| dbSNP (classic) | rs56199535 |
| ClinGen | rs56199535 |
| ebi | rs56199535 |
| HLI | rs56199535 |
| Exac | rs56199535 |
| Gnomad | rs56199535 |
| Varsome | rs56199535 |
| LitVar | rs56199535 |
| Map | rs56199535 |
| PheGenI | rs56199535 |
| Biobank | rs56199535 |
| 1000 genomes | rs56199535 |
| hgdp | rs56199535 |
| ensembl | rs56199535 |
| geneview | rs56199535 |
| scholar | rs56199535 |
| rs56199535 | |
| pharmgkb | rs56199535 |
| gwascentral | rs56199535 |
| openSNP | rs56199535 |
| 23andMe | rs56199535 |
| SNPshot | rs56199535 |
| SNPdbe | rs56199535 |
| MSV3d | rs56199535 |
| GWAS Ctlg | rs56199535 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs56199535(A;A) rs56199535(G;G) rs56199535(T;T) |
| Alt | rs56199535(A;A) rs56199535(G;G) rs56199535(T;T) |
| Reference | Rs56199535(C;C) |
| Significance | Pathogenic |
| Disease | Dubin-Johnson syndrome |
| Variation | info |
| Gene | ABCC2 |
| CLNDBN | Dubin-Johnson syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.101578577C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008923.5, |
