MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474706
rs199474706
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs199474706
rs199474706
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 GeneticVariation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618 2009