Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906789
rs387906789
VCP
0.020 GeneticVariation BEFREE FTD was diagnosed in two individuals and suspected in the third one who also displayed muscle weakness.A VCP R159C mutation was found. 22900631

2013
dbSNP: rs387906789
rs387906789
VCP
0.020 GeneticVariation BEFREE We report a novel heterozygous VCP gene mutation (R159C) in a 69-year-old Italian patient presenting with slowly progressive muscle weakness of the distal upper and proximal lower limbs since the age of 50 years, 18 years later FTD supervened. 17889967

2009