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
0.776 0.160 10 119672373 missense variant C/A;T snv
Myopathy, Myofibrillar, Bag3-Related
0.800 1.000 12 2009 2016
dbSNP: rs397516881
rs397516881
0.827 0.120 10 119676917 missense variant G/A snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.800 1.000 2 1990 2014
dbSNP: rs387906874
rs387906874
1.000 10 119669881 missense variant C/T snv 1.4E-04 7.7E-05
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.800 1.000 0 2011 2011
dbSNP: rs387906876
rs387906876
0.925 0.040 10 119676984 missense variant G/A snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.800 1.000 0 2011 2011
dbSNP: rs397514507
rs397514507
0.925 0.040 10 119676939 missense variant T/C snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.800 1.000 0 2011 2011
dbSNP: rs121918312
rs121918312
0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
0.730 1.000 0 2010 2016
dbSNP: rs397516881
rs397516881
0.827 0.120 10 119676917 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 1.000 4 2011 2017
dbSNP: rs121918312
rs121918312
0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1.000 11 2009 2016
dbSNP: rs869248137
rs869248137
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 4 2011 2014
dbSNP: rs387906875
rs387906875
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 3 2011 2015
dbSNP: rs397516881
rs397516881
0.827 0.120 10 119676917 missense variant G/A snv
Myopathy, Myofibrillar, Bag3-Related
0.700 1.000 2 1990 2014
dbSNP: rs727505109
rs727505109
1.000 10 119676617 frameshift variant C/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 2 2011 2011
dbSNP: rs1057517945
rs1057517945
0.925 0.080 10 119669938 stop gained C/T snv
Myopathy, Myofibrillar, Bag3-Related
0.700 1.000 1 2011 2011
dbSNP: rs1057517945
rs1057517945
0.925 0.080 10 119669938 stop gained C/T snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1.000 1 2011 2011
dbSNP: rs1554875409
rs1554875409
10 119651752 stop gained G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2015 2015
dbSNP: rs387906875
rs387906875
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1.000 1 2011 2011
dbSNP: rs387906875
rs387906875
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06
Myopathy, Myofibrillar, Bag3-Related
0.700 1.000 1 2011 2011
dbSNP: rs869248137
rs869248137
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1.000 1 2014 2014
dbSNP: rs869248137
rs869248137
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06
Myopathy, Myofibrillar, Bag3-Related
0.700 1.000 1 2014 2014
dbSNP: rs1060502815
rs1060502815
1.000 10 119676899 stop gained A/G;T snv 4.0E-06
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 0
dbSNP: rs1135402750
rs1135402750
1.000 10 119672416 frameshift variant -/T delins
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 0
dbSNP: rs117749531
rs117749531
1.000 10 119676794 stop gained G/A;T snv 3.5E-04
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 0
dbSNP: rs121918312
rs121918312
0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.700 0
dbSNP: rs1554877001
rs1554877001
0.925 0.080 10 119669932 stop gained C/T snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 0
dbSNP: rs1554877001
rs1554877001
0.925 0.080 10 119669932 stop gained C/T snv
Myopathy, Myofibrillar, Bag3-Related
0.700 0