rs80358218
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 3 | Unaffected carrier of a 3HSDB2 deficiency mutation |
(C;C) | 7 | 3HSDB2 deficiency; congenital adrenal hyperplasia |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 119422620 |
Gene | HSD3B2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358218 |
dbSNP (classic) | rs80358218 |
ClinGen | rs80358218 |
ebi | rs80358218 |
HLI | rs80358218 |
Exac | rs80358218 |
Gnomad | rs80358218 |
Varsome | rs80358218 |
LitVar | rs80358218 |
Map | rs80358218 |
PheGenI | rs80358218 |
Biobank | rs80358218 |
1000 genomes | rs80358218 |
hgdp | rs80358218 |
ensembl | rs80358218 |
geneview | rs80358218 |
scholar | rs80358218 |
rs80358218 | |
pharmgkb | rs80358218 |
gwascentral | rs80358218 |
openSNP | rs80358218 |
23andMe | rs80358218 |
SNPshot | rs80358218 |
SNPdbe | rs80358218 |
MSV3d | rs80358218 |
GWAS Ctlg | rs80358218 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs80358218(C;C) rs80358218(G;G) |
Alt | Rs80358218(C;C) rs80358218(G;G) |
Reference | Rs80358218(A;A) |
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.119965243A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012972.3, |