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rs119481078

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119481078(A;A)
Make rs119481078(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position96298451
GeneHSD17B3
is asnp
is mentioned by
dbSNPrs119481078
ebirs119481078
HLIrs119481078
Exacrs119481078
Varsomers119481078
Maprs119481078
PheGenIrs119481078
hapmaprs119481078
1000 genomesrs119481078
hgdprs119481078
ensemblrs119481078
gopubmedrs119481078
geneviewrs119481078
scholarrs119481078
googlers119481078
pharmgkbrs119481078
gwascentralrs119481078
openSNPrs119481078
23andMers119481078
23andMe allrs119481078
SNP Nexus

SNPshotrs119481078
SNPdbers119481078
MSV3drs119481078
GWAS Ctlgrs119481078
Max Magnitude0
OMIM605573
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119481078(A;A)
Alt rs119481078(A;A)
Reference rs119481078(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.99060733C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005155.2,