rs119481075, HSD17B3

N. diseases: 4
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 96254906 missense variant C/T snv 8.8E-05 8.4E-05 0.710 1.000 1 2012 2012
Pseudohermaphroditism
CUI: C0033804
Disease: Pseudohermaphroditism
19 0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05 0.710 1.000 1 1996 1996
Deficiency of reductase
CUI: C1291316
Disease: Deficiency of reductase
8 0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05 0.010 1.000 1 2012 2012
Disorders of Sex Development
CUI: C0036875
Disease: Disorders of Sex Development
6 0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05 0.010 1.000 1 2012 2012