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rs119481077

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119481077(C;T)
Make rs119481077(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position96254907
GeneHSD17B3
is asnp
is mentioned by
dbSNPrs119481077
ebirs119481077
HLIrs119481077
Exacrs119481077
Varsomers119481077
Maprs119481077
PheGenIrs119481077
hapmaprs119481077
1000 genomesrs119481077
hgdprs119481077
ensemblrs119481077
gopubmedrs119481077
geneviewrs119481077
scholarrs119481077
googlers119481077
pharmgkbrs119481077
gwascentralrs119481077
openSNPrs119481077
23andMers119481077
23andMe allrs119481077
SNP Nexus

SNPshotrs119481077
SNPdbers119481077
MSV3drs119481077
GWAS Ctlgrs119481077
Max Magnitude0
OMIM605573
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119481077(T;T)
Alt rs119481077(T;T)
Reference rs119481077(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.99017189G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005153.2,