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rs119481080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119481080(A;A)
Make rs119481080(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position96240777
GeneHSD17B3
is asnp
is mentioned by
dbSNPrs119481080
ebirs119481080
HLIrs119481080
Exacrs119481080
Varsomers119481080
Maprs119481080
PheGenIrs119481080
hapmaprs119481080
1000 genomesrs119481080
hgdprs119481080
ensemblrs119481080
gopubmedrs119481080
geneviewrs119481080
scholarrs119481080
googlers119481080
pharmgkbrs119481080
gwascentralrs119481080
openSNPrs119481080
23andMers119481080
23andMe allrs119481080
SNP Nexus

SNPshotrs119481080
SNPdbers119481080
MSV3drs119481080
GWAS Ctlgrs119481080
Max Magnitude0
OMIM605573
Desc
Variant0010
Relatedalso
ClinVar
Risk rs119481080(A;A)
Alt rs119481080(A;A)
Reference rs119481080(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.99003059C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005157.3,