rs80358217
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Unaffected carrier of a 3HSDB2 deficiency mutation |
(T;T) | 7 | 3HSDB2 deficiency; congenital adrenal hyperplasia |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 119422246 |
Gene | HSD3B2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358217 |
dbSNP (classic) | rs80358217 |
ClinGen | rs80358217 |
ebi | rs80358217 |
HLI | rs80358217 |
Exac | rs80358217 |
Gnomad | rs80358217 |
Varsome | rs80358217 |
LitVar | rs80358217 |
Map | rs80358217 |
PheGenI | rs80358217 |
Biobank | rs80358217 |
1000 genomes | rs80358217 |
hgdp | rs80358217 |
ensembl | rs80358217 |
geneview | rs80358217 |
scholar | rs80358217 |
rs80358217 | |
pharmgkb | rs80358217 |
gwascentral | rs80358217 |
openSNP | rs80358217 |
23andMe | rs80358217 |
SNPshot | rs80358217 |
SNPdbe | rs80358217 |
MSV3d | rs80358217 |
GWAS Ctlg | rs80358217 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs80358217(T;T) |
Alt | Rs80358217(T;T) |
Reference | Rs80358217(C;C) |
Significance | Pathogenic |
Disease | 3 beta-Hydroxysteroid dehydrogenase deficiency |
Variation | info |
Gene | HSD3B2 |
CLNDBN | 3 beta-Hydroxysteroid dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.119964869C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012970.2, |