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: rs121918312
rs121918312 		0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		Musculoskeletal Diseases; Nervous System Diseases 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 5 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 3 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 3 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 3 2011 2011
dbSNP: rs2234962
rs2234962 		1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs121918312
rs121918312 		0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.730 1.000 3 2010 2016
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: 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 		Cardiovascular Diseases 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 		Cardiovascular Diseases 0.700 1.000 3 2011 2015
dbSNP: rs397514506
rs397514506 		1.000 10 119672399 missense variant C/T snv 8.4E-05 4.2E-05
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 1.000 3 2011 2011
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: 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: 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: rs1057517945
rs1057517945 		0.925 0.080 10 119669938 stop gained C/T snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1554875409
rs1554875409 		10 119651752 stop gained G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17617337
rs17617337 		10 119667372 intron variant C/T snv 0.15
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs2234962
rs2234962 		1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs387906875
rs387906875 		0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
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: 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: 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: 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