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rs121964896

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 7 3HSDB2 deficiency; congenital adrenal hyperplasia
(AA;GT) 3 Unaffected carrier of a 3HSDB2 deficiency mutation
(GT;GT) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position119422243
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs121964896
ebirs121964896
HLIrs121964896
Exacrs121964896
Varsomers121964896
Maprs121964896
PheGenIrs121964896
hapmaprs121964896
1000 genomesrs121964896
hgdprs121964896
ensemblrs121964896
gopubmedrs121964896
geneviewrs121964896
scholarrs121964896
googlers121964896
pharmgkbrs121964896
gwascentralrs121964896
openSNPrs121964896
23andMers121964896
23andMe allrs121964896
SNP Nexus

SNPshotrs121964896
SNPdbers121964896
MSV3drs121964896
GWAS Ctlgrs121964896
Max Magnitude7
OMIM201810
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121964896(AA;AA)
Alt rs121964896(AA;AA)
Reference rs121964896(GT;GT)
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.119964866_119964867delGTinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012969.3,