Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434525
rs121434525
ACTN2
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 		0.800 1.000 0 2004 2014
dbSNP: rs786205144
rs786205144
ACTN2
1.000 0.040 1 236731300 missense variant T/C snv
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1AA 		0.800 0
dbSNP: rs727502886
rs727502886
ACTN2
0.925 0.040 1 236719007 missense variant G/A snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 1 2010 2010
dbSNP: rs727502886
rs727502886
ACTN2
0.925 0.040 1 236719007 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2010 2010
dbSNP: rs727502886
rs727502886
ACTN2
0.925 0.040 1 236719007 missense variant G/A snv
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1AA 		0.700 0
dbSNP: rs770335717
rs770335717
ACTN2
1.000 0.080 1 236761132 stop gained G/A;T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0