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.
MYOPATHY, MYOFIBRILLAR, 3
CUI: C3714934
Disease: MYOPATHY, MYOFIBRILLAR, 3
4 0.925 0.080 5 137870821 missense variant C/T snv 0.800 1.000 5 1988 2006
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
24 0.925 0.080 5 137870821 missense variant C/T snv 0.700 0