Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564526327
rs1564526327
VCL ; LOC107984244
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397517244
rs397517244
VCL
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc. 16949038

2006
dbSNP: rs397517245
rs397517245
VCL
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		CA 0.700 GeneticVariation CLINVAR

dbSNP: rs727503738
rs727503738
VCL
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs727503741
rs727503741
VCL
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs727503741
rs727503741
VCL
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs727504381
rs727504381
VCL
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Cardiac-myocyte-specific excision of the vinculin gene disrupts cellular junctions, causing sudden death or dilated cardiomyopathy. 17785437

2007
dbSNP: rs779488376
rs779488376
VCL
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR Cardiac-myocyte-specific excision of the vinculin gene disrupts cellular junctions, causing sudden death or dilated cardiomyopathy. 17785437

2007
dbSNP: rs781036800
rs781036800
VCL
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs863225121
rs863225121
VCL
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs876657674
rs876657674
VCL
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		AG 0.700 GeneticVariation CLINVAR