rs991104525, ARSB

N. diseases: 4
Disease: Heart valve disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Heart valve disease
CUI: C0018824
Disease: Heart valve disease
0.010 GeneticVariation BEFREE Patients homozygous for the p.R152W mutation present a cardiac variant of MPS VI characterized by progressive cardiac valve disease leading to serious cardiac complications including abrupt death due to cardiac failure. 23633437 2013