rs747724352, HSD17B3

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
17-Hydroxysteroid Dehydrogenase Deficiency
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17 0.925 0.240 9 96251474 missense variant C/T snv 2.0E-05 0.700 1.000 6 1994 2016
Pseudohermaphroditism
CUI: C0033804
Disease: Pseudohermaphroditism
19 0.925 0.240 9 96251474 missense variant C/T snv 2.0E-05 0.700 0
46, XY Disorders of Sex Development
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
10 0.925 0.240 9 96251474 missense variant C/T snv 2.0E-05 0.010 1.000 1 2016 2016