rs200631005, ACTN2

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.
Cardiomyopathy, Dilated, 1AA
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
5 0.925 0.040 1 236751561 missense variant A/C;G snv 2.4E-05; 1.1E-03 0.700 1.000 2 2010 2014
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.925 0.040 1 236751561 missense variant A/C;G snv 2.4E-05; 1.1E-03 0.010 1.000 1 2010 2010