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.
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.020 1.000 2 2012 2017
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.010 1.000 1 2019 2019
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.010 1.000 1 2019 2019
Endometriosis
CUI: C0014175
Disease: Endometriosis
274 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.010 1.000 1 2016 2016
Machado-Joseph Disease
CUI: C0024408
Disease: Machado-Joseph Disease
12 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.010 1.000 1 2019 2019
Mild cognitive disorder
CUI: C1270972
Disease: Mild cognitive disorder
96 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.010 1.000 1 2019 2019