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: rs1554877224
rs1554877224
BAG3
1.000 10 119672353 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: rs1564767043
rs1564767043
BAG3
0.925 0.080 10 119651821 stop gained G/A snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 0
dbSNP: rs1564767043
rs1564767043
BAG3
0.925 0.080 10 119651821 stop gained G/A snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs1564773559
rs1564773559
BAG3
10 119669920 frameshift variant -/TGTGTAC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1564773589
rs1564773589
BAG3
0.925 0.080 10 119669946 frameshift variant -/T delins
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 0
dbSNP: rs1564773589
rs1564773589
BAG3
0.925 0.080 10 119669946 frameshift variant -/T delins
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs1564774433
rs1564774433
BAG3
0.925 0.080 10 119672284 stop gained C/A snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		0.700 0
dbSNP: rs1564774433
rs1564774433
BAG3
0.925 0.080 10 119672284 stop gained C/A snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs727502897
rs727502897
BAG3
10 119651742 frameshift variant C/-;CC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
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: rs727505283
rs727505283
BAG3
10 119651774 frameshift variant ACCGGCTG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		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: 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: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		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: rs876661342
rs876661342
BAG3
0.925 0.080 10 119672446 stop gained C/A snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
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