Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs553628577
rs553628577
MYH14
0.010 GeneticVariation BEFREE Here, we attempt to dissect the mechanism(s) by which mutations in the rod region of beta-MyHC can cause a variety of diseases by analyzing two mutations at a single amino acid (R1500P and R1500W) which cause two distinct diseases (Laing-type early-onset distal myopathy and dilated cardiomyopathy, respectively). 19854198

2010