rs767167623
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | 3HSDB2 deficiency; congenital adrenal hyperplasia |
(-;G) | 3 | Unaffected carrier of a 3HSDB2 deficiency mutation |
(G;G) | 0 | common/normal |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 119422368 |
Gene | HSD3B2 |
is a | snp |
is | mentioned by |
dbSNP | rs767167623 |
dbSNP (classic) | rs767167623 |
ClinGen | rs767167623 |
ebi | rs767167623 |
HLI | rs767167623 |
Exac | rs767167623 |
Gnomad | rs767167623 |
Varsome | rs767167623 |
LitVar | rs767167623 |
Map | rs767167623 |
PheGenI | rs767167623 |
Biobank | rs767167623 |
1000 genomes | rs767167623 |
hgdp | rs767167623 |
ensembl | rs767167623 |
geneview | rs767167623 |
scholar | rs767167623 |
rs767167623 | |
pharmgkb | rs767167623 |
gwascentral | rs767167623 |
openSNP | rs767167623 |
23andMe | rs767167623 |
SNPshot | rs767167623 |
SNPdbe | rs767167623 |
MSV3d | rs767167623 |
GWAS Ctlg | rs767167623 |
Max Magnitude | 7 |
rs767167623, also known as c.867delG, represents a rare mutation in the HSD3B2 gene on chromosome 1.