rs794726669
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TTGGAG;TTGGAG) | 0 | common in clinvar |
| Make rs794726669(-;-) |
| Make rs794726669(-;GAGTTG) |
| Make rs794726669(GAGTTG;GAGTTG) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 67435705 |
| Gene | HSD11B2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794726669 |
| dbSNP (classic) | rs794726669 |
| ClinGen | rs794726669 |
| ebi | rs794726669 |
| HLI | rs794726669 |
| Exac | rs794726669 |
| Gnomad | rs794726669 |
| Varsome | rs794726669 |
| LitVar | rs794726669 |
| Map | rs794726669 |
| PheGenI | rs794726669 |
| Biobank | rs794726669 |
| 1000 genomes | rs794726669 |
| hgdp | rs794726669 |
| ensembl | rs794726669 |
| geneview | rs794726669 |
| scholar | rs794726669 |
| rs794726669 | |
| pharmgkb | rs794726669 |
| gwascentral | rs794726669 |
| openSNP | rs794726669 |
| 23andMe | rs794726669 |
| SNPshot | rs794726669 |
| SNPdbe | rs794726669 |
| MSV3d | rs794726669 |
| GWAS Ctlg | rs794726669 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794726669(-;-) |
| Alt | rs794726669(-;-) |
| Reference | Rs794726669(TTGGAG;TTGGAG) |
| Significance | Pathogenic |
| Disease | Apparent mineralocorticoid excess |
| Variation | info |
| Gene | HSD11B2 |
| CLNDBN | Apparent mineralocorticoid excess, mild |
| Reversed | 0 |
| HGVS | NC_000016.9:g.67469608_67469613delGAGTTG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012882.5, |
