rs397509434
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCT;GCT) | 0 | common in clinvar |
Make rs397509434(-;-) |
Make rs397509434(-;GCT) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 67436795 |
Gene | HSD11B2 |
is a | snp |
is | mentioned by |
dbSNP | rs397509434 |
dbSNP (classic) | rs397509434 |
ClinGen | rs397509434 |
ebi | rs397509434 |
HLI | rs397509434 |
Exac | rs397509434 |
Gnomad | rs397509434 |
Varsome | rs397509434 |
LitVar | rs397509434 |
Map | rs397509434 |
PheGenI | rs397509434 |
Biobank | rs397509434 |
1000 genomes | rs397509434 |
hgdp | rs397509434 |
ensembl | rs397509434 |
geneview | rs397509434 |
scholar | rs397509434 |
rs397509434 | |
pharmgkb | rs397509434 |
gwascentral | rs397509434 |
openSNP | rs397509434 |
23andMe | rs397509434 |
SNPshot | rs397509434 |
SNPdbe | rs397509434 |
MSV3d | rs397509434 |
GWAS Ctlg | rs397509434 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397509434(-;-) |
Alt | rs397509434(-;-) |
Reference | Rs397509434(GCT;GCT) |
Significance | Pathogenic |
Disease | Apparent mineralocorticoid excess |
Variation | info |
Gene | HSD11B2 |
CLNDBN | Apparent mineralocorticoid excess |
Reversed | 0 |
HGVS | NC_000016.9:g.67470698_67470700delGCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012878.5, |