rs28934591
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs28934591(C;T) |
Make rs28934591(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 67436115 |
Gene | HSD11B2 |
is a | snp |
is | mentioned by |
dbSNP | rs28934591 |
dbSNP (classic) | rs28934591 |
ClinGen | rs28934591 |
ebi | rs28934591 |
HLI | rs28934591 |
Exac | rs28934591 |
Gnomad | rs28934591 |
Varsome | rs28934591 |
LitVar | rs28934591 |
Map | rs28934591 |
PheGenI | rs28934591 |
Biobank | rs28934591 |
1000 genomes | rs28934591 |
hgdp | rs28934591 |
ensembl | rs28934591 |
geneview | rs28934591 |
scholar | rs28934591 |
rs28934591 | |
pharmgkb | rs28934591 |
gwascentral | rs28934591 |
openSNP | rs28934591 |
23andMe | rs28934591 |
SNPshot | rs28934591 |
SNPdbe | rs28934591 |
MSV3d | rs28934591 |
GWAS Ctlg | rs28934591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28934591(T;T) |
Alt | rs28934591(T;T) |
Reference | Rs28934591(C;C) |
Significance | Pathogenic |
Disease | Apparent mineralocorticoid excess |
Variation | info |
Gene | HSD11B2 |
CLNDBN | Apparent mineralocorticoid excess |
Reversed | 0 |
HGVS | NC_000016.9:g.67470018C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012875.4, |