Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119481077
rs119481077
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? 24025597

2013
dbSNP: rs119481077
rs119481077
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis. 21214500

2011
dbSNP: rs119481077
rs119481077
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings. 22212252

2011
dbSNP: rs119481077
rs119481077
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR 17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence. 19498320

2009
dbSNP: rs119481077
rs119481077
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. 9758445

1998