ACTN2, actinin alpha 2, 88

N. diseases: 35; N. variants: 9
Disease: Cardiomyopathy, Dilated, 1AA ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434525
rs121434525 		1.000 0.040 1 236686699 missense variant A/G snv 7.1E-04 6.9E-04
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1AA 		Cardiovascular Diseases 0.800 1.000 2 2004 2014
dbSNP: rs786205144
rs786205144 		1.000 0.040 1 236731300 missense variant T/C snv
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1AA 		Cardiovascular Diseases 0.800 0
dbSNP: rs200631005
rs200631005 		0.925 0.040 1 236751561 missense variant A/C;G snv 2.4E-05; 1.1E-03
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1AA 		Cardiovascular Diseases 0.700 1.000 2 2010 2014
dbSNP: rs727502886
rs727502886 		0.925 0.040 1 236719007 missense variant G/A snv
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1AA 		Cardiovascular Diseases 0.700 0
dbSNP: rs786204951
rs786204951 		0.925 0.040 1 236753990 missense variant A/G snv
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1AA 		Cardiovascular Diseases 0.700 0