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rs119481074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119481074(A;G)
Make rs119481074(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position96240877
GeneHSD17B3
is asnp
is mentioned by
dbSNPrs119481074
dbSNP (classic)rs119481074
ClinGenrs119481074
ebirs119481074
HLIrs119481074
Exacrs119481074
Gnomadrs119481074
Varsomers119481074
LitVarrs119481074
Maprs119481074
PheGenIrs119481074
Biobankrs119481074
1000 genomesrs119481074
hgdprs119481074
ensemblrs119481074
geneviewrs119481074
scholarrs119481074
googlers119481074
pharmgkbrs119481074
gwascentralrs119481074
openSNPrs119481074
23andMers119481074
SNPshotrs119481074
SNPdbers119481074
MSV3drs119481074
GWAS Ctlgrs119481074
Max Magnitude0
OMIM605573
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119481074(G;G)
Alt rs119481074(G;G)
Reference Rs119481074(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.99003159T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005149.3,