rs398122936, ACTA1

N. diseases: 1
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 1.000 0.080 1 229431727 missense variant C/G snv 0.800 1.000 14 1999 2015