rs201115371, 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 96254864 splice region variant T/A snv 3.4E-04 3.7E-04 0.700 1.000 4 1996 2012
Pseudohermaphroditism
CUI: C0033804
Disease: Pseudohermaphroditism
19 0.925 0.240 9 96254864 splice region variant T/A snv 3.4E-04 3.7E-04 0.700 0