rs121909520, ACTA1

N. diseases: 2
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.
Actin-Accumulation Myopathy
CUI: C3711389
Disease: Actin-Accumulation Myopathy
48 0.925 0.080 1 229432660 missense variant T/C snv 0.800 1.000 14 1999 2015
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.080 1 229432660 missense variant T/C snv 0.010 1.000 1 2016 2016