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rs119481079

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119481079(A;G)
Make rs119481079(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position96251482
GeneHSD17B3
is asnp
is mentioned by
dbSNPrs119481079
ebirs119481079
HLIrs119481079
Exacrs119481079
Varsomers119481079
Maprs119481079
PheGenIrs119481079
hapmaprs119481079
1000 genomesrs119481079
hgdprs119481079
ensemblrs119481079
gopubmedrs119481079
geneviewrs119481079
scholarrs119481079
googlers119481079
pharmgkbrs119481079
gwascentralrs119481079
openSNPrs119481079
23andMers119481079
23andMe allrs119481079
SNP Nexus

SNPshotrs119481079
SNPdbers119481079
MSV3drs119481079
GWAS Ctlgrs119481079
Max Magnitude0
OMIM605573
Desc
Variant0009
Relatedalso
ClinVar
Risk rs119481079(G;G)
Alt rs119481079(G;G)
Reference rs119481079(A;A)
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.99013764T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005156.3,