Gene: MYH7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR

dbSNP: rs141735183
rs141735183
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs148808089
rs148808089
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR

dbSNP: rs397516088
rs397516088
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516142
rs397516142
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516165
rs397516165
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516260
rs397516260
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397516269
rs397516269
MYH7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs45516091
rs45516091
MYH7
A 0.700 CausalMutation CLINVAR

dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR

dbSNP: rs727503246
rs727503246
MYH7 ; MIR208B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs730880895
rs730880895
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs730880903
rs730880903
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1343372308
rs1343372308
MYH7 ; MHRT
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: rs886039204
rs886039204
MYH7
0.010 GeneticVariation BEFREE Two novel variants in cardiomyopathy-related genes were identified: c.247 A > C; p.N83H in the Troponin T Type 2 gene (TNNT2) and c.2863G > A; p.D955N in the Myosin Heavy Polypeptide 7 gene (MYH7). 28642161

2017
dbSNP: rs371855540
rs371855540
MYH7 ; MHRT
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
dbSNP: rs727503249
rs727503249
MYH7 ; MIR208B
0.010 GeneticVariation BEFREE This patient had a family history of congestive heart failure, including pediatric onset cardiomyopathy where 3 individuals in the family were found to have the MYH7 mutation R1250W. 20031619

2009
dbSNP: rs727504273
rs727504273
MYH7
0.010 GeneticVariation BEFREE In one family, a member homozygous for Lys207Gln had cardiomyopathy complicated by left ventricular dilatation, systolic impairment, atrial fibrillation, and defibrillator interventions. 15528230

2005