rs111647200
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs111647200(A;A) |
| Make rs111647200(A;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 32039807 |
| Gene | CYP21A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111647200 |
| dbSNP (classic) | rs111647200 |
| ClinGen | rs111647200 |
| ebi | rs111647200 |
| HLI | rs111647200 |
| Exac | rs111647200 |
| Gnomad | rs111647200 |
| Varsome | rs111647200 |
| LitVar | rs111647200 |
| Map | rs111647200 |
| PheGenI | rs111647200 |
| Biobank | rs111647200 |
| 1000 genomes | rs111647200 |
| hgdp | rs111647200 |
| ensembl | rs111647200 |
| geneview | rs111647200 |
| scholar | rs111647200 |
| rs111647200 | |
| pharmgkb | rs111647200 |
| gwascentral | rs111647200 |
| openSNP | rs111647200 |
| 23andMe | rs111647200 |
| SNPshot | rs111647200 |
| SNPdbe | rs111647200 |
| MSV3d | rs111647200 |
| GWAS Ctlg | rs111647200 |
| Merged from | Rs151344502 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111647200(A;A) |
| Alt | rs111647200(A;A) |
| Reference | Rs111647200(T;T) |
| Significance | Pathogenic |
| Disease | 21-hydroxylase deficiency |
| Variation | info |
| Gene | CYP21A2 |
| CLNDBN | 21-hydroxylase deficiency |
| Reversed | 0 |
| HGVS | NC_000006.11:g.32007584T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012947.3, |
