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: 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: 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
dbSNP: rs1135402750
rs1135402750 		1.000 10 119672416 frameshift variant -/T delins
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs117749531
rs117749531 		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: 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: 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: 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: rs121918312
rs121918312 		0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.020 1.000 2 2015 2018
dbSNP: rs121918312
rs121918312 		0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121918312
rs121918312 		0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121918312
rs121918312 		0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121918312
rs121918312 		0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121918312
rs121918312 		0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121918312
rs121918312 		0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121918312
rs121918312 		0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System 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: 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: rs1554877224
rs1554877224 		1.000 10 119672353 frameshift variant -/C delins
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		0.700 0
dbSNP: rs1554877765
rs1554877765 		1.000 10 119676710 frameshift variant -/C delins
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH 		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: rs1564773559
rs1564773559 		10 119669920 frameshift variant -/TGTGTAC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
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