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: rs121917776
rs121917776 		0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121917776
rs121917776 		0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121917776
rs121917776 		0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs727503741
rs727503741 		1.000 0.040 10 74114349 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503741
rs727503741 		1.000 0.040 10 74114349 stop gained C/T snv
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		Cardiovascular Diseases 0.700 0
dbSNP: rs1874148
rs1874148 		10 74114657 intron variant A/G snv 1.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1874148
rs1874148 		10 74114657 intron variant A/G snv 1.8E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1874148
rs1874148 		10 74114657 intron variant A/G snv 1.8E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1874148
rs1874148 		10 74114657 intron variant A/G snv 1.8E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1874148
rs1874148 		10 74114657 intron variant A/G snv 1.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1874148
rs1874148 		10 74114657 intron variant A/G snv 1.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012