rs757033996, HSD3B2

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.
3 beta-Hydroxysteroid dehydrogenase deficiency
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
25 0.882 0.200 1 119419519 missense variant G/A snv 2.0E-05 4.9E-05 0.700 1.000 17 1993 2012
Precocious pubarche
CUI: C0342541
Disease: Precocious pubarche
11 0.882 0.200 1 119419519 missense variant G/A snv 2.0E-05 4.9E-05 0.010 1.000 1 1994 1994
Pseudohermaphroditism
CUI: C0033804
Disease: Pseudohermaphroditism
19 0.882 0.200 1 119419519 missense variant G/A snv 2.0E-05 4.9E-05 0.010 1.000 1 1994 1994