rs376023420
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs376023420(C;T) |
| Make rs376023420(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 67436156 |
| Gene | HSD11B2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs376023420 |
| dbSNP (classic) | rs376023420 |
| ClinGen | rs376023420 |
| ebi | rs376023420 |
| HLI | rs376023420 |
| Exac | rs376023420 |
| Gnomad | rs376023420 |
| Varsome | rs376023420 |
| LitVar | rs376023420 |
| Map | rs376023420 |
| PheGenI | rs376023420 |
| Biobank | rs376023420 |
| 1000 genomes | rs376023420 |
| hgdp | rs376023420 |
| ensembl | rs376023420 |
| geneview | rs376023420 |
| scholar | rs376023420 |
| rs376023420 | |
| pharmgkb | rs376023420 |
| gwascentral | rs376023420 |
| openSNP | rs376023420 |
| 23andMe | rs376023420 |
| SNPshot | rs376023420 |
| SNPdbe | rs376023420 |
| MSV3d | rs376023420 |
| GWAS Ctlg | rs376023420 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs376023420(A;A) rs376023420(G;G) rs376023420(T;T) |
| Alt | rs376023420(A;A) rs376023420(G;G) rs376023420(T;T) |
| Reference | Rs376023420(C;C) |
| Significance | Pathogenic |
| Disease | Apparent mineralocorticoid excess |
| Variation | info |
| Gene | HSD11B2 |
| CLNDBN | Apparent mineralocorticoid excess |
| Reversed | 0 |
| HGVS | NC_000016.9:g.67470059C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024126.4, |
