BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs876661342
rs876661342 		0.925 0.080 10 119672446 stop gained C/A snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs876661342
rs876661342 		0.925 0.080 10 119672446 stop gained C/A snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs876657634
rs876657634 		0.925 0.080 10 119672477 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs876657634
rs876657634 		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 		0.925 0.080 10 119672477 stop gained C/T snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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 		Cardiovascular Diseases 0.700 1.000 4 2011 2014
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
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		Musculoskeletal Diseases; Nervous System Diseases 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
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs869025365
rs869025365 		10 119672657 splice donor variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs751261054
rs751261054 		1.000 0.040 10 119672583 stop gained C/A;T snv 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs730880055
rs730880055 		10 119676851 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs727505283
rs727505283 		10 119651774 frameshift variant ACCGGCTG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs727505109
rs727505109 		1.000 10 119676617 frameshift variant C/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 2 2011 2011
dbSNP: rs727505109
rs727505109 		1.000 10 119676617 frameshift variant C/- delins
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs727502897
rs727502897 		10 119651742 frameshift variant C/-;CC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs7095308
rs7095308 		10 119666800 intron variant G/A snv 0.26
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
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 5 1990 2014
dbSNP: rs397516881
rs397516881 		0.827 0.120 10 119676917 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.710 1.000 4 2011 2017
dbSNP: rs397516881
rs397516881 		0.827 0.120 10 119676917 missense variant G/A snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1990 2014
dbSNP: rs397516881
rs397516881 		0.827 0.120 10 119676917 missense variant G/A snv
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs397516881
rs397516881 		0.827 0.120 10 119676917 missense variant G/A snv
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs397516881
rs397516881 		0.827 0.120 10 119676917 missense variant G/A snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs397516881
rs397516881 		0.827 0.120 10 119676917 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
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 3 2011 2011