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: rs747724352
rs747724352
HSD17B3
0.925 0.240 9 96251474 missense variant C/T snv 2.0E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 1.000 6 1994 2016
dbSNP: rs747724352
rs747724352
HSD17B3
0.925 0.240 9 96251474 missense variant C/T snv 2.0E-05
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		0.700 0
dbSNP: rs747724352
rs747724352
HSD17B3
0.925 0.240 9 96251474 missense variant C/T snv 2.0E-05
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		0.010 1.000 1 2016 2016