rs397516254, MYH7;MHRT

N. diseases: 3
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454 2014
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454 2014
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
Distal Myopathy 1
CUI: C4552004
Disease: Distal Myopathy 1
0.700 CausalMutation CLINVAR
CARDIOMYOPATHY, DILATED, 1S
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
0.700 CausalMutation CLINVAR