rs121917781
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121917781(C;T) |
Make rs121917781(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 67436794 |
Gene | HSD11B2 |
is a | snp |
is | mentioned by |
dbSNP | rs121917781 |
dbSNP (classic) | rs121917781 |
ClinGen | rs121917781 |
ebi | rs121917781 |
HLI | rs121917781 |
Exac | rs121917781 |
Gnomad | rs121917781 |
Varsome | rs121917781 |
LitVar | rs121917781 |
Map | rs121917781 |
PheGenI | rs121917781 |
Biobank | rs121917781 |
1000 genomes | rs121917781 |
hgdp | rs121917781 |
ensembl | rs121917781 |
geneview | rs121917781 |
scholar | rs121917781 |
rs121917781 | |
pharmgkb | rs121917781 |
gwascentral | rs121917781 |
openSNP | rs121917781 |
23andMe | rs121917781 |
SNPshot | rs121917781 |
SNPdbe | rs121917781 |
MSV3d | rs121917781 |
GWAS Ctlg | rs121917781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917781(T;T) |
Alt | rs121917781(T;T) |
Reference | Rs121917781(C;C) |
Significance | Pathogenic |
Disease | Apparent mineralocorticoid excess |
Variation | info |
Gene | HSD11B2 |
CLNDBN | Apparent mineralocorticoid excess |
Reversed | 0 |
HGVS | NC_000016.9:g.67470697C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012876.3, |