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: 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: rs119481075
rs119481075
HSD17B3
0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		0.710 1.000 1 1996 1996
dbSNP: rs119481075
rs119481075
HSD17B3
0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		0.010 1.000 1 2012 2012
dbSNP: rs119481075
rs119481075
HSD17B3
0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		0.010 1.000 1 2012 2012