rs119481076, HSD17B3

N. diseases: 2
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 96244393 missense variant G/A;T snv 2.0E-05; 8.0E-06 0.700 0
Pseudohermaphroditism
CUI: C0033804
Disease: Pseudohermaphroditism
19 0.925 0.240 9 96244393 missense variant G/A;T snv 2.0E-05; 8.0E-06 0.700 0