Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894501
rs104894501
TPM1
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894505
rs104894505
TPM1
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		A 0.800 CausalMutation CLINVAR

dbSNP: rs199476317
rs199476317
TPM1
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs199476317
rs199476317
TPM1
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		A 0.700 CausalMutation CLINVAR Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies. 25548289

2015
dbSNP: rs199476317
rs199476317
TPM1
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs199476317
rs199476317
TPM1
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		A 0.700 CausalMutation CLINVAR Energy landscapes reveal the myopathic effects of tropomyosin mutations. 25241052

2014
dbSNP: rs199476317
rs199476317
TPM1
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		A 0.700 CausalMutation CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503

2013
dbSNP: rs199476317
rs199476317
TPM1
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		A 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs199476317
rs199476317
TPM1
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		A 0.700 CausalMutation CLINVAR Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. 20117437

2010
dbSNP: rs886037905
rs886037905
TPM1
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		C 0.700 GeneticVariation CLINVAR