rs17222547
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs17222547(A;A) |
| Make rs17222547(A;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 99831628 |
| Gene | ABCC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17222547 |
| dbSNP (classic) | rs17222547 |
| ClinGen | rs17222547 |
| ebi | rs17222547 |
| HLI | rs17222547 |
| Exac | rs17222547 |
| Gnomad | rs17222547 |
| Varsome | rs17222547 |
| LitVar | rs17222547 |
| Map | rs17222547 |
| PheGenI | rs17222547 |
| Biobank | rs17222547 |
| 1000 genomes | rs17222547 |
| hgdp | rs17222547 |
| ensembl | rs17222547 |
| geneview | rs17222547 |
| scholar | rs17222547 |
| rs17222547 | |
| pharmgkb | rs17222547 |
| gwascentral | rs17222547 |
| openSNP | rs17222547 |
| 23andMe | rs17222547 |
| SNPshot | rs17222547 |
| SNPdbe | rs17222547 |
| MSV3d | rs17222547 |
| GWAS Ctlg | rs17222547 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs17222547(A;A) |
| Alt | rs17222547(A;A) |
| Reference | Rs17222547(C;C) |
| Significance | Pathogenic |
| Disease | Dubin-Johnson syndrome |
| Variation | info |
| Gene | ABCC2 |
| CLNDBN | Dubin-Johnson syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.101591385C>A |
| CLNSRC | |
| CLNACC | RCV000176262.1, |
