rs587776566
From SNPedia
| Orientation | plus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AAT;AAT) | 0 | common in clinvar |
| (AATG;AATG) | 0 | common in clinvar |
| (ATT;ATT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs587776566(-;-) |
| Make rs587776566(-;ATT) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 31531448 |
| Gene | SRD5A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776566 |
| dbSNP (classic) | rs587776566 |
| ClinGen | rs587776566 |
| ebi | rs587776566 |
| HLI | rs587776566 |
| Exac | rs587776566 |
| Gnomad | rs587776566 |
| Varsome | rs587776566 |
| LitVar | rs587776566 |
| Map | rs587776566 |
| PheGenI | rs587776566 |
| Biobank | rs587776566 |
| 1000 genomes | rs587776566 |
| hgdp | rs587776566 |
| ensembl | rs587776566 |
| geneview | rs587776566 |
| scholar | rs587776566 |
| rs587776566 | |
| pharmgkb | rs587776566 |
| gwascentral | rs587776566 |
| openSNP | rs587776566 |
| 23andMe | rs587776566 |
| SNPshot | rs587776566 |
| SNPdbe | rs587776566 |
| MSV3d | rs587776566 |
| GWAS Ctlg | rs587776566 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs587776566(ATT;ATT) rs587776566(-;-) |
| Alt | Rs587776566(ATT;ATT) rs587776566(-;-) |
| Reference | Rs587776566(AAT;AAT) |
| Significance | Pathogenic |
| Disease | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| Variation | info |
| Gene | SRD5A2 |
| CLNDBN | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| Reversed | 1 |
| HGVS | NC_000002.11:g.31756518_31756520delATT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003502.2, |
