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: rs876661342
rs876661342
BAG3
0.925 0.080 10 119672446 stop gained C/A snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 0
dbSNP: rs876657634
rs876657634
BAG3
0.925 0.080 10 119672477 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs876657634
rs876657634
BAG3
0.925 0.080 10 119672477 stop gained C/T snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs876657634
rs876657634
BAG3
0.925 0.080 10 119672477 stop gained C/T snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 0
dbSNP: rs751261054
rs751261054
BAG3
1.000 0.040 10 119672583 stop gained C/A;T snv 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs869025365
rs869025365
BAG3
10 119672657 splice donor variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869248137
rs869248137
BAG3
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: rs869248137
rs869248137
BAG3
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
BAG3
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 1.000 1 2014 2014
dbSNP: rs869248137
rs869248137
BAG3
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs727505109
rs727505109
BAG3
1.000 10 119676617 frameshift variant C/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2011 2011
dbSNP: rs727505109
rs727505109
BAG3
1.000 10 119676617 frameshift variant C/- delins
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs1554877765
rs1554877765
BAG3
1.000 10 119676710 frameshift variant -/C delins
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs117749531
rs117749531
BAG3
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: rs730880055
rs730880055
BAG3
10 119676851 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1060502815
rs1060502815
BAG3
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: rs397516881
rs397516881
BAG3
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: rs397516881
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 1.000 2 1990 2014
dbSNP: rs397516881
rs397516881
BAG3
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: rs397514507
rs397514507
BAG3
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: rs387906876
rs387906876
BAG3
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