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.
Nemaline myopathy 6
CUI: C1836472
Disease: Nemaline myopathy 6
5 0.925 0.080 15 65078037 missense variant C/A;T snv 0.800 1.000 2 2010 2012
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.080 15 65078037 missense variant C/A;T snv 0.010 1.000 1 2020 2020