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: rs150974575
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 9 2000 2013
dbSNP: rs267607483
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 7 2000 2013
dbSNP: rs727504448
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 5 2000 2012
dbSNP: rs62636495
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 4 2007 2009
dbSNP: rs267607495
rs267607495
DES
2 219418497 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2011 2011
dbSNP: rs267607490
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0