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: rs45578238
rs45578238
0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 15 2000 2019
dbSNP: rs397517889
rs397517889
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 14 2000 2014
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 11 2012 2017
dbSNP: rs45544633
rs45544633
1.000 0.080 14 23417174 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 11 2004 2015
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: rs397515947
rs397515947
1.000 0.040 11 47339376 frameshift variant G/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 7 1998 2017
dbSNP: rs397516784
rs397516784
0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 7 2006 2012
dbSNP: rs121913642
rs121913642
0.925 0.080 14 23427879 missense variant A/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 6 1989 2013
dbSNP: rs267607554
rs267607554
1.000 0.080 1 156135925 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 6 2006 2014
dbSNP: rs61444459
rs61444459
0.851 0.160 1 156137667 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 6 2003 2014
dbSNP: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 6 1999 2014
dbSNP: rs267607002
rs267607002
1.000 0.040 10 110812303 missense variant C/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 2009 2016
dbSNP: rs267607155
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 1999 2017
dbSNP: rs397516165
rs397516165
0.925 0.080 14 23424118 missense variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 2011 2017
dbSNP: rs397516943
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 2013 2017
dbSNP: rs61195471
rs61195471
0.827 0.160 1 156134496 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 2001 2013
dbSNP: rs727503253
rs727503253
1.000 0.040 14 23424119 missense variant G/A snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 2011 2017
dbSNP: rs727503512
rs727503512
0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 2012 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: rs727504452
rs727504452
2 178702186 frameshift variant CTGCCGTGCT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 2002 2012
dbSNP: rs727504801
rs727504801
0.925 0.080 3 38560397 frameshift variant G/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 1998 2012
dbSNP: rs199473161
rs199473161
1.000 0.080 3 38586038 missense variant G/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 4 2005 2014
dbSNP: rs267607003
rs267607003
0.925 0.040 10 110812310 missense variant C/A;G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 4 2009 2012
dbSNP: rs267607578
rs267607578
0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 4 2007 2012