Source: CLINVAR

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: 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: rs142236065
rs142236065
HSD17B3 ; HSD17B3-AS1
1.000 0.240 9 96245352 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 0
dbSNP: rs780178733
rs780178733
HSD17B3
1.000 0.240 9 96254924 missense variant T/C;G snv 1.6E-05; 1.6E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 0