Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62636495
rs62636495
DES
0.800 GeneticVariation UNIPROT The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388

2015
dbSNP: rs62636495
rs62636495
DES
T 0.800 CausalMutation CLINVAR Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. 17720647

2007
dbSNP: rs62636495
rs62636495
DES
0.800 GeneticVariation UNIPROT Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. 16865695

2006
dbSNP: rs62636495
rs62636495
DES
0.800 GeneticVariation UNIPROT αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. 28470624

2017