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: rs119481077
rs119481077
HSD17B3
0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.800 1.000 5 1998 2013
dbSNP: rs119481077
rs119481077
HSD17B3
0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		0.700 0
dbSNP: rs119481077
rs119481077
HSD17B3
0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.010 1.000 1 1998 1998