rs121917833
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121917833(A;A) |
Make rs121917833(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 67436251 |
Gene | HSD11B2 |
is a | snp |
is | mentioned by |
dbSNP | rs121917833 |
dbSNP (classic) | rs121917833 |
ClinGen | rs121917833 |
ebi | rs121917833 |
HLI | rs121917833 |
Exac | rs121917833 |
Gnomad | rs121917833 |
Varsome | rs121917833 |
LitVar | rs121917833 |
Map | rs121917833 |
PheGenI | rs121917833 |
Biobank | rs121917833 |
1000 genomes | rs121917833 |
hgdp | rs121917833 |
ensembl | rs121917833 |
geneview | rs121917833 |
scholar | rs121917833 |
rs121917833 | |
pharmgkb | rs121917833 |
gwascentral | rs121917833 |
openSNP | rs121917833 |
23andMe | rs121917833 |
SNPshot | rs121917833 |
SNPdbe | rs121917833 |
MSV3d | rs121917833 |
GWAS Ctlg | rs121917833 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917833(A;A) |
Alt | rs121917833(A;A) |
Reference | Rs121917833(G;G) |
Significance | Pathogenic |
Disease | Apparent mineralocorticoid excess |
Variation | info |
Gene | HSD11B2 |
CLNDBN | Apparent mineralocorticoid excess |
Reversed | 0 |
HGVS | NC_000016.9:g.67470154G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012883.4, |