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rs730880305

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880305(A;A)
Make rs730880305(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position96244395
GeneHSD17B3, LOC105376162
is asnp
is mentioned by
dbSNPrs730880305
ebirs730880305
HLIrs730880305
Exacrs730880305
Varsomers730880305
Maprs730880305
PheGenIrs730880305
hapmaprs730880305
1000 genomesrs730880305
hgdprs730880305
ensemblrs730880305
gopubmedrs730880305
geneviewrs730880305
scholarrs730880305
googlers730880305
pharmgkbrs730880305
gwascentralrs730880305
openSNPrs730880305
23andMers730880305
23andMe allrs730880305
SNP Nexus

SNPshotrs730880305
SNPdbers730880305
MSV3drs730880305
GWAS Ctlgrs730880305
Max Magnitude0
ClinVar
Risk rs730880305(A;A)
Alt rs730880305(A;A)
Reference rs730880305(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.99006677C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005154.3,