rs794726670
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (ACT;ACT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs794726670(-;-) |
| Make rs794726670(-;TAC) |
| Make rs794726670(TAC;TAC) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 67436680 |
| Gene | HSD11B2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794726670 |
| dbSNP (classic) | rs794726670 |
| ClinGen | rs794726670 |
| ebi | rs794726670 |
| HLI | rs794726670 |
| Exac | rs794726670 |
| Gnomad | rs794726670 |
| Varsome | rs794726670 |
| LitVar | rs794726670 |
| Map | rs794726670 |
| PheGenI | rs794726670 |
| Biobank | rs794726670 |
| 1000 genomes | rs794726670 |
| hgdp | rs794726670 |
| ensembl | rs794726670 |
| geneview | rs794726670 |
| scholar | rs794726670 |
| rs794726670 | |
| pharmgkb | rs794726670 |
| gwascentral | rs794726670 |
| openSNP | rs794726670 |
| 23andMe | rs794726670 |
| SNPshot | rs794726670 |
| SNPdbe | rs794726670 |
| MSV3d | rs794726670 |
| GWAS Ctlg | rs794726670 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794726670(-;-) |
| Alt | rs794726670(-;-) |
| Reference | Rs794726670(ACT;ACT) |
| Significance | Pathogenic |
| Disease | Apparent mineralocorticoid excess |
| Variation | info |
| Gene | HSD11B2 |
| CLNDBN | Apparent mineralocorticoid excess |
| Reversed | 0 |
| HGVS | NC_000016.9:g.67470583_67470585delTAC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012884.4, |
