Have questions? Visit https://www.reddit.com/r/SNPedia

rs119481076

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119481076(C;T)
Make rs119481076(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position96244393
GeneHSD17B3
is asnp
is mentioned by
dbSNPrs119481076
ebirs119481076
HLIrs119481076
Exacrs119481076
Varsomers119481076
Maprs119481076
PheGenIrs119481076
hapmaprs119481076
1000 genomesrs119481076
hgdprs119481076
ensemblrs119481076
gopubmedrs119481076
geneviewrs119481076
scholarrs119481076
googlers119481076
pharmgkbrs119481076
gwascentralrs119481076
openSNPrs119481076
23andMers119481076
23andMe allrs119481076
SNP Nexus

SNPshotrs119481076
SNPdbers119481076
MSV3drs119481076
GWAS Ctlgrs119481076
Max Magnitude0
OMIM605573
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119481076(A,T;A,T)
Alt rs119481076(A,T;A,T)
Reference rs119481076(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.99006675G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005151.2,