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, |