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rs28939085

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939085(C;T)
Make rs28939085(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position96240885
GeneHSD17B3
is asnp
is mentioned by
dbSNPrs28939085
ebirs28939085
HLIrs28939085
Exacrs28939085
Varsomers28939085
Maprs28939085
PheGenIrs28939085
hapmaprs28939085
1000 genomesrs28939085
hgdprs28939085
ensemblrs28939085
gopubmedrs28939085
geneviewrs28939085
scholarrs28939085
googlers28939085
pharmgkbrs28939085
gwascentralrs28939085
openSNPrs28939085
23andMers28939085
23andMe allrs28939085
SNP Nexus

SNPshotrs28939085
SNPdbers28939085
MSV3drs28939085
GWAS Ctlgrs28939085
Max Magnitude0
OMIM605573
Desc17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
Variant0001
Relatedalso


ClinVar
Risk rs28939085(T;T)
Alt rs28939085(T;T)
Reference rs28939085(C;C)
Significance Pathogenic
Disease Testosterone 17-beta-dehydrogenase deficiency
Variation info
Gene HSD17B3
CLNDBN Testosterone 17-beta-dehydrogenase deficiency
Reversed 1
HGVS NC_000009.11:g.99003167G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005148.3,