rs794726684
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs794726684(-;-) |
Make rs794726684(-;CA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 67431325 |
Gene | HSD11B2 |
is a | snp |
is | mentioned by |
dbSNP | rs794726684 |
dbSNP (classic) | rs794726684 |
ClinGen | rs794726684 |
ebi | rs794726684 |
HLI | rs794726684 |
Exac | rs794726684 |
Gnomad | rs794726684 |
Varsome | rs794726684 |
LitVar | rs794726684 |
Map | rs794726684 |
PheGenI | rs794726684 |
Biobank | rs794726684 |
1000 genomes | rs794726684 |
hgdp | rs794726684 |
ensembl | rs794726684 |
geneview | rs794726684 |
scholar | rs794726684 |
rs794726684 | |
pharmgkb | rs794726684 |
gwascentral | rs794726684 |
openSNP | rs794726684 |
23andMe | rs794726684 |
SNPshot | rs794726684 |
SNPdbe | rs794726684 |
MSV3d | rs794726684 |
GWAS Ctlg | rs794726684 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726684(-;-) |
Alt | rs794726684(-;-) |
Reference | Rs794726684(CA;CA) |
Significance | Pathogenic |
Disease | Apparent mineralocorticoid excess |
Variation | info |
Gene | HSD11B2 |
CLNDBN | Apparent mineralocorticoid excess |
Reversed | 0 |
HGVS | NC_000016.9:g.67465228_67465229delCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024128.3, |