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.
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
24 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 0.710 1.000 1 2012 2012
MYOPATHY, MYOFIBRILLAR, 3
CUI: C3714934
Disease: MYOPATHY, MYOFIBRILLAR, 3
4 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 0.700 1.000 12 2004 2016
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
18 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2009 2009
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2006 2006