Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150759461
rs150759461
MYH11
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.020 GeneticVariation BEFREE Additionally, a Myh11 variant, p.Arg247Cys, which does not cause aortic disease in either humans or mice, was crossed with the Acta2<sup>-/-</sup> mouse, which has aortic enlargement with age while Acta2<sup>+/-</sup> mice do not. 29961567

2018
dbSNP: rs150759461
rs150759461
MYH11
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.020 GeneticVariation BEFREE Similar reductions in force responses were obtained with tissues containing either a heterozygous or homozygous knockin mutation in smooth muscle myosin heavy chain (Myh11+/R247C or Myh11R247C/R247C mutations that cause human aortic disease) with no significant changes in RLC phosphorylation. 29494672

2018