VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
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: rs10824058
rs10824058 		10 74031881 intron variant G/A snv 0.34
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs938335177
rs938335177 		1.000 0.040 10 74043094 synonymous variant G/A snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs774870551
rs774870551 		0.925 0.160 10 74070712 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 0.500 2 2017 2017
dbSNP: rs774870551
rs774870551 		0.925 0.160 10 74070712 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs774870551
rs774870551 		0.925 0.160 10 74070712 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs397517244
rs397517244 		10 74072792 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs144683137
rs144683137 		0.925 0.120 10 74074745 missense variant A/G;T snv 1.2E-05; 3.6E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs144683137
rs144683137 		0.925 0.120 10 74074745 missense variant A/G;T snv 1.2E-05; 3.6E-05
CUI: C0345237
Disease: Short segment Hirschsprung's disease
Short segment Hirschsprung's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs397517245
rs397517245 		10 74074773 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs876657674
rs876657674 		10 74074789 frameshift variant -/G delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs71579353
rs71579353 		1.000 0.080 10 74082499 missense variant C/A;T snv 1.1E-04; 8.0E-06
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1564526327
rs1564526327 		10 74083453 frameshift variant T/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs863225121
rs863225121 		1.000 0.080 10 74094449 missense variant G/T snv
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs727503738
rs727503738 		10 74095654 splice acceptor variant A/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs779488376
rs779488376 		10 74095825 frameshift variant A/- del 4.0E-05 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2007 2007
dbSNP: rs4746172
rs4746172 		10 74096084 intron variant C/T snv 0.73
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4746172
rs4746172 		10 74096084 intron variant C/T snv 0.73
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4746172
rs4746172 		10 74096084 intron variant C/T snv 0.73
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs727504381
rs727504381 		10 74097222 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2007 2007
dbSNP: rs150385900
rs150385900 		1.000 0.080 10 74107316 missense variant G/C snv 1.1E-03 5.2E-04
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs550741064
rs550741064 		10 74111961 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs550741064
rs550741064 		10 74111961 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs781036800
rs781036800 		10 74111991 frameshift variant CT/- del 1.3E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs121917776
rs121917776 		0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.030 1.000 3 2006 2013
dbSNP: rs121917776
rs121917776 		0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06
CUI: C1969639
Disease: Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1w 		Cardiovascular Diseases 0.700 1.000 2 2002 2006