rs119481077, 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 0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06 0.800 1.000 5 1998 2013
Pseudohermaphroditism
CUI: C0033804
Disease: Pseudohermaphroditism
19 0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06 0.700 0
Male Pseudohermaphroditism
CUI: C0238395
Disease: Male Pseudohermaphroditism
4 0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 1998 1998