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: rs267606629
rs267606629
ACTC1 ; LOC101928174
1.000 0.080 15 34790549 missense variant C/G snv
CUI: C2677506
Disease: Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 11 		0.800 1.000 0 2011 2017
dbSNP: rs387906585
rs387906585
ACTC1 ; LOC101928174
1.000 0.080 15 34793468 frameshift variant CATGCTCGATGGGATAC/- delins
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 0
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
15 34792471 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397517071
rs397517071
ACTC1 ; LOC101928174
1.000 0.040 15 34792092 missense variant A/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397517071
rs397517071
ACTC1 ; LOC101928174
1.000 0.040 15 34792092 missense variant A/G snv
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.700 0