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: rs121918312
rs121918312
0.821 0.071 10 119672373 missense variant C/A,T snp
Myopathy, Myofibrillar, Bag3-Related
0.800 13 1993 2017
dbSNP: rs387906876
rs387906876
1.000 10 119676984 missense variant G/A snp
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.800 1 2011 2011
dbSNP: rs397514507
rs397514507
0.923 0.036 10 119676939 missense variant T/C snp
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.800 1 2012 2012
dbSNP: rs397516881
rs397516881
1.000 10 119676917 missense variant G/A snp
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.800 1 2012 2017
dbSNP: rs121918312
rs121918312
0.821 0.071 10 119672373 missense variant C/A,T snp
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 12 2009 2017
dbSNP: rs397516881
rs397516881
1.000 10 119676917 missense variant G/A snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 5 2012 2017
dbSNP: rs869248137
rs869248137
0.923 0.036 10 119676479 stop gained C/T snp 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 5 2012 2015
dbSNP: rs387906875
rs387906875
0.923 0.071 10 119670037 stop gained C/T snp 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 4 2011 2016
dbSNP: rs727505109
rs727505109
1.000 10 119676621 frameshift variant CC/C in-del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 3 2011 2013
dbSNP: rs387906875
rs387906875
0.923 0.071 10 119670037 stop gained C/T snp 8.0E-06
Myopathy, Myofibrillar, Bag3-Related
0.700 2 2011 2017
dbSNP: rs387906875
rs387906875
0.923 0.071 10 119670037 stop gained C/T snp 8.0E-06
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 2 2011 2017
dbSNP: rs1057517945
rs1057517945
1.000 10 119669938 stop gained C/T snp
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1 2017 2017
dbSNP: rs1060502815
rs1060502815
1.000 10 119676899 stop gained A/G,T snp 4.0E-06
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1 2017 2017
dbSNP: rs117749531
rs117749531
1.000 10 119676794 missense variant G/A,T snp 3.5E-04 9.6E-05
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1 2017 2017
dbSNP: rs727502897
rs727502897
10 119651747 frameshift variant CC/C in-del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1 2013 2013
dbSNP: rs727505109
rs727505109
1.000 10 119676621 frameshift variant CC/C in-del
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1 2017 2017
dbSNP: rs727505283
rs727505283
10 119651775 frameshift variant GACCGGCTG/G in-del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1 2013 2013
dbSNP: rs751261054
rs751261054
1.000 0.036 10 119672583 stop gained C/A,T snp 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.700 1 2015 2015
dbSNP: rs869248137
rs869248137
0.923 0.036 10 119676479 stop gained C/T snp 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.700 1 2015 2015
dbSNP: rs869248137
rs869248137
0.923 0.036 10 119676479 stop gained C/T snp 4.0E-06
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1 2017 2017
dbSNP: rs876657634
rs876657634
10 119672477 stop gained C/T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1 2013 2013
dbSNP: rs876661342
rs876661342
0.923 0.071 10 119672446 stop gained C/A snp
Myopathy, Myofibrillar, Bag3-Related
0.700 1 2017 2017
dbSNP: rs876661342
rs876661342
0.923 0.071 10 119672446 stop gained C/A snp
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1 2017 2017
dbSNP: rs1135402750
rs1135402750
1.000 10 119672417 frameshift variant T/TT in-del
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 0
dbSNP: rs730880055
rs730880055
10 119676851 stop gained C/T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0