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rs119481075

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119481075(A;A)
Make rs119481075(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position96254906
GeneHSD17B3
is asnp
is mentioned by
dbSNPrs119481075
ebirs119481075
HLIrs119481075
Exacrs119481075
Varsomers119481075
Maprs119481075
PheGenIrs119481075
hapmaprs119481075
1000 genomesrs119481075
hgdprs119481075
ensemblrs119481075
gopubmedrs119481075
geneviewrs119481075
scholarrs119481075
googlers119481075
pharmgkbrs119481075
gwascentralrs119481075
openSNPrs119481075
23andMers119481075
23andMe allrs119481075
SNP Nexus

SNPshotrs119481075
SNPdbers119481075
MSV3drs119481075
GWAS Ctlgrs119481075
Max Magnitude0
OMIM605573
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119481075(A;A)
Alt rs119481075(A;A)
Reference rs119481075(G;G)
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.99017188C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005150.2, RCV000198988.1,