Source: ALL

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: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.020 0.500 2 1997 2007
dbSNP: rs145579007
rs145579007
ACE
0.925 0.080 17 63496503 missense variant G/A snv 1.0E-04 1.0E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 2007 2007
dbSNP: rs750712925
rs750712925
ACE
0.925 0.080 17 63477227 missense variant G/A;C;T snv 3.2E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 2007 2007