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: rs201115371
rs201115371
HSD17B3
0.925 0.240 9 96254864 splice region variant T/A snv 3.4E-04 3.7E-04
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 1.000 4 1996 2012
dbSNP: rs201115371
rs201115371
HSD17B3
0.925 0.240 9 96254864 splice region variant T/A snv 3.4E-04 3.7E-04
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		0.700 0