rs28934593
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs28934593(A;A) |
Make rs28934593(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 67436795 |
Gene | HSD11B2 |
is a | snp |
is | mentioned by |
dbSNP | rs28934593 |
dbSNP (classic) | rs28934593 |
ClinGen | rs28934593 |
ebi | rs28934593 |
HLI | rs28934593 |
Exac | rs28934593 |
Gnomad | rs28934593 |
Varsome | rs28934593 |
LitVar | rs28934593 |
Map | rs28934593 |
PheGenI | rs28934593 |
Biobank | rs28934593 |
1000 genomes | rs28934593 |
hgdp | rs28934593 |
ensembl | rs28934593 |
geneview | rs28934593 |
scholar | rs28934593 |
rs28934593 | |
pharmgkb | rs28934593 |
gwascentral | rs28934593 |
openSNP | rs28934593 |
23andMe | rs28934593 |
SNPshot | rs28934593 |
SNPdbe | rs28934593 |
MSV3d | rs28934593 |
GWAS Ctlg | rs28934593 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28934593(A;A) |
Alt | rs28934593(A;A) |
Reference | Rs28934593(G;G) |
Significance | Pathogenic |
Disease | Apparent mineralocorticoid excess |
Variation | info |
Gene | HSD11B2 |
CLNDBN | Apparent mineralocorticoid excess |
Reversed | 0 |
HGVS | NC_000016.9:g.67470698G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012878.1, |