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: rs267607002
rs267607002
1.000 0.040 10 110812303 missense variant C/A;T snv
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
0.800 1.000 9 2009 2016
dbSNP: rs267607004
rs267607004
0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
0.800 1.000 7 2009 2015
dbSNP: rs267607001
rs267607001
1.000 0.040 10 110812298 missense variant G/A snv 6.6E-06
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
0.800 1.000 5 1990 2012
dbSNP: rs267607003
rs267607003
0.925 0.040 10 110812310 missense variant C/A;G;T snv
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
0.800 1.000 4 2009 2013
dbSNP: rs267607005
rs267607005
1.000 0.040 10 110812306 missense variant A/G snv
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
0.800 1.000 0 2009 2012
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: 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: rs267607004
rs267607004
0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 3 2009 2013
dbSNP: rs397516607
rs397516607
0.925 0.040 10 110821356 missense variant G/A snv
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
0.700 1.000 2 2014 2016
dbSNP: rs727504763
rs727504763
10 110821880 frameshift variant CC/G delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 2 2009 2010
dbSNP: rs397516607
rs397516607
0.925 0.040 10 110821356 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2016 2016
dbSNP: rs1114167331
rs1114167331
1.000 0.040 10 110812301 missense variant C/G snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S
0.700 0
dbSNP: rs1554898987
rs1554898987
1.000 0.040 10 110781625 stop gained G/A snv
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
0.700 0
dbSNP: rs1564664312
rs1564664312
1.000 0.040 10 110821333 missense variant T/A snv
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
0.700 0
dbSNP: rs1564664312
rs1564664312
1.000 0.040 10 110821333 missense variant T/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs267607003
rs267607003
0.925 0.040 10 110812310 missense variant C/A;G;T snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S
0.700 0
dbSNP: rs267607004
rs267607004
0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.700 0
dbSNP: rs267607004
rs267607004
0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs397516607
rs397516607
0.925 0.040 10 110821356 missense variant G/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs563762318
rs563762318
10 110831154 missense variant G/A snv 2.8E-04 6.3E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs727504859
rs727504859
10 110821365 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs796734066
rs796734066
1.000 0.040 10 110812297 missense variant C/A;T snv
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
0.700 0