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: rs727502897
rs727502897 		10 119651742 frameshift variant C/-;CC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
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: rs727505283
rs727505283 		10 119651774 frameshift variant ACCGGCTG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs1564767043
rs1564767043 		0.925 0.080 10 119651821 stop gained G/A snv
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1564767043
rs1564767043 		0.925 0.080 10 119651821 stop gained G/A snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		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: 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: 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: rs1564773559
rs1564773559 		10 119669920 frameshift variant -/TGTGTAC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554877001
rs1554877001 		0.925 0.080 10 119669932 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: 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: 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: rs1564773589
rs1564773589 		0.925 0.080 10 119669946 frameshift variant -/T delins
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1564773589
rs1564773589 		0.925 0.080 10 119669946 frameshift variant -/T delins
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
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: 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: 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: rs2234962
rs2234962 		1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
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: rs1564774433
rs1564774433 		0.925 0.080 10 119672284 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: rs1564774433
rs1564774433 		0.925 0.080 10 119672284 stop gained C/A snv
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs1554877224
rs1554877224 		1.000 10 119672353 frameshift variant -/C delins
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: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 2009 2016