rs556794126
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs556794126(-;GGAT) |
| Make rs556794126(GGAT;GGAT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 102830790 |
| Gene | CYP17A1, CYP17A1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs556794126 |
| dbSNP (classic) | rs556794126 |
| ClinGen | rs556794126 |
| ebi | rs556794126 |
| HLI | rs556794126 |
| Exac | rs556794126 |
| Gnomad | rs556794126 |
| Varsome | rs556794126 |
| LitVar | rs556794126 |
| Map | rs556794126 |
| PheGenI | rs556794126 |
| Biobank | rs556794126 |
| 1000 genomes | rs556794126 |
| hgdp | rs556794126 |
| ensembl | rs556794126 |
| geneview | rs556794126 |
| scholar | rs556794126 |
| rs556794126 | |
| pharmgkb | rs556794126 |
| gwascentral | rs556794126 |
| openSNP | rs556794126 |
| 23andMe | rs556794126 |
| SNPshot | rs556794126 |
| SNPdbe | rs556794126 |
| MSV3d | rs556794126 |
| GWAS Ctlg | rs556794126 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs556794126(GGAT;GGAT) |
| Alt | rs556794126(GGAT;GGAT) |
| Reference | Rs556794126(-;-) |
| Significance | Pathogenic |
| Disease | Complete combined 17-alpha-hydroxylase/17 Congenital adrenal hyperplasia |
| Variation | info |
| Gene | CYP17A1 |
| CLNDBN | Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Congenital adrenal hyperplasia |
| Reversed | 0 |
| HGVS | NC_000010.10:g.104590548_104590551dupGGAT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001849.3, RCV000337017.1, |
