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.
Alpha-Sarcoglycanopathies
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
58 0.882 0.200 17 50167653 missense variant C/T snv 4.6E-04 4.5E-04 0.810 1.000 20 1994 2018
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
3 0.882 0.200 17 50167653 missense variant C/T snv 4.6E-04 4.5E-04 0.700 1.000 8 1995 2016
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.882 0.200 17 50167653 missense variant C/T snv 4.6E-04 4.5E-04 0.010 1.000 1 2005 2005