Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906789
rs387906789
VCP
C 0.800 CausalMutation CLINVAR

dbSNP: rs121909329
rs121909329
VCP
0.800 GeneticVariation UNIPROT A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. 23349634

2013
dbSNP: rs121909334
rs121909334
VCP
0.800 GeneticVariation UNIPROT A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. 23349634

2013
dbSNP: rs387906789
rs387906789
VCP
0.800 GeneticVariation UNIPROT A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. 23349634

2013
dbSNP: rs387906790
rs387906790
VCP
0.700 GeneticVariation UNIPROT A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. 23349634

2013
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization. 23333620

2013
dbSNP: rs1554669087
rs1554669087
VCP
A 0.700 CausalMutation CLINVAR A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization. 23333620

2013
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR Altered intersubunit communication is the molecular basis for functional defects of pathogenic p97 mutants. 24196964

2013
dbSNP: rs387906789
rs387906789
VCP
A 0.800 CausalMutation CLINVAR Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 19704082

2009
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 19704082

2009
dbSNP: rs121909329
rs121909329
VCP
0.800 GeneticVariation UNIPROT Exome sequencing reveals VCP mutations as a cause of familial ALS. 21145000

2010
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR Exome sequencing reveals VCP mutations as a cause of familial ALS. 21145000

2010
dbSNP: rs121909334
rs121909334
VCP
0.800 GeneticVariation UNIPROT Exome sequencing reveals VCP mutations as a cause of familial ALS. 21145000

2010
dbSNP: rs387906789
rs387906789
VCP
0.800 GeneticVariation UNIPROT Exome sequencing reveals VCP mutations as a cause of familial ALS. 21145000

2010
dbSNP: rs387906790
rs387906790
VCP
0.700 GeneticVariation UNIPROT Exome sequencing reveals VCP mutations as a cause of familial ALS. 21145000

2010
dbSNP: rs121909330
rs121909330
VCP
A 0.700 CausalMutation CLINVAR Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. 22909335

2013
dbSNP: rs387906789
rs387906789
VCP
A 0.800 CausalMutation CLINVAR Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. 28692196

2018
dbSNP: rs121909329
rs121909329
VCP
T 0.800 CausalMutation CLINVAR Global gene expression profiling in R155H knock-in murine model of VCP disease. 25388089

2015
dbSNP: rs121909330
rs121909330
VCP
A 0.700 CausalMutation CLINVAR Global gene expression profiling in R155H knock-in murine model of VCP disease. 25388089

2015
dbSNP: rs121909330
rs121909330
VCP
A 0.700 CausalMutation CLINVAR Heteromeric p97/p97R155C complexes induce dominant negative changes in wild-type and autophagy 9-deficient Dictyostelium strains. 23056506

2012
dbSNP: rs121909330
rs121909330
VCP
A 0.700 CausalMutation CLINVAR IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation. 27768726

2016
dbSNP: rs387906789
rs387906789
VCP
A 0.800 CausalMutation CLINVAR Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. 25492614

2014
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. 25492614

2014
dbSNP: rs387906789
rs387906789
VCP
A 0.800 CausalMutation CLINVAR Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. 17889967

2009
dbSNP: rs387906789
rs387906789
VCP
A 0.800 CausalMutation CLINVAR Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064

2005