rs1388517943, HSD3B2

N. diseases: 1
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 1.000 0.200 1 119419574 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 17 1993 2012