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.
Filaminopathy, autosomal dominant
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
38 0.882 0.120 7 128858475 stop gained G/A snv 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.882 0.120 7 128858475 stop gained G/A snv 0.010 1.000 1 2012 2012
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
24 0.882 0.120 7 128858475 stop gained G/A snv 0.010 1.000 1 2009 2009