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rs767167623

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 7 3HSDB2 deficiency; congenital adrenal hyperplasia
(-;G) 3 Unaffected carrier of a 3HSDB2 deficiency mutation
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position119422368
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs767167623
dbSNP (classic)rs767167623
ClinGenrs767167623
ebirs767167623
HLIrs767167623
Exacrs767167623
Gnomadrs767167623
Varsomers767167623
LitVarrs767167623
Maprs767167623
PheGenIrs767167623
Biobankrs767167623
1000 genomesrs767167623
hgdprs767167623
ensemblrs767167623
geneviewrs767167623
scholarrs767167623
googlers767167623
pharmgkbrs767167623
gwascentralrs767167623
openSNPrs767167623
23andMers767167623
SNPshotrs767167623
SNPdbers767167623
MSV3drs767167623
GWAS Ctlgrs767167623
Max Magnitude7

rs767167623, also known as c.867delG, represents a rare mutation in the HSD3B2 gene on chromosome 1.