Variant: rs1057517773 

    present in Gene: MYH7
    present in Chromosome: 14
    Position on Chromosome: 23431641
    Alleles of this Variant: C/T

rs1057517773 in MYH7 gene and Cardiomyopathy, Hypertrophic, Familial PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

PMID 26656175 2016 Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.