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: 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: 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: 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: 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: 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: 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