Disease: Cardiomyopathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45544633
rs45544633
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0878544
Disease:
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1343372308
rs1343372308
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Clinically, the p. (Asn1918Lys) mutation is associated with congenital heart defects and/or cardiomyopathy at young age but with a relatively benign course. 28864942 2017
dbSNP: rs371855540
rs371855540
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Furthermore, the proband's childhood-onset distal leg weakness and sister's cardiomyopathy suggest that MYH7 p.Arg1820Gln likely affects function, favoring a digenic etiology of the myopathy. 27282841 2016