Source: BEFREE

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: rs119481075
rs119481075
HSD17B3
0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.710 1.000 1 2012 2012
dbSNP: rs119481080
rs119481080
HSD17B3
1.000 0.240 9 96240777 missense variant C/T snv
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.710 1.000 1 2001 2001