Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880742
rs730880742
MYH7
C 0.710 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs730880742
rs730880742
MYH7
0.710 GeneticVariation BEFREE We found MYH7 Met822Val in a woman with a severe form of HC; the mutation was absent in her parents, indicating a de novo mutation. 12881443

2003
dbSNP: rs730880742
rs730880742
MYH7
C 0.710 CausalMutation CLINVAR We found MYH7 Met822Val in a woman with a severe form of HC; the mutation was absent in her parents, indicating a de novo mutation. 12881443

2003