Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs144809928
rs144809928
HSD17B3
0.925 0.240 9 96235548 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 1.000 6 1994 2016
dbSNP: rs144809928
rs144809928
HSD17B3
0.925 0.240 9 96235548 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		0.700 0