rs727502886, ACTN2

N. diseases: 3
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.
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.925 0.040 1 236719007 missense variant G/A snv 0.700 1.000 1 2010 2010
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.925 0.040 1 236719007 missense variant G/A snv 0.700 1.000 1 2010 2010
Cardiomyopathy, Dilated, 1AA
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
5 0.925 0.040 1 236719007 missense variant G/A snv 0.700 0