Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750548
rs63750548
GRN
G 0.700 CausalMutation CLINVAR Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. 28264768

2017
dbSNP: rs63750548
rs63750548
GRN
G 0.700 CausalMutation CLINVAR A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. 27258413

2016
dbSNP: rs63751296
rs63751296
GRN
C 0.700 CausalMutation CLINVAR Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. 23338682

2013
dbSNP: rs1555611412
rs1555611412
GRN
G 0.700 CausalMutation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501

2012
dbSNP: rs63750548
rs63750548
GRN
G 0.700 CausalMutation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501

2012
dbSNP: rs63750707
rs63750707
GRN
A 0.700 GeneticVariation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501

2012
dbSNP: rs63751296
rs63751296
GRN
C 0.700 CausalMutation CLINVAR Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort. 22647257

2012
dbSNP: rs63751296
rs63751296
GRN
C 0.700 CausalMutation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501

2012
dbSNP: rs1555611412
rs1555611412
GRN
G 0.700 CausalMutation CLINVAR Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. 21482928

2011
dbSNP: rs1555611412
rs1555611412
GRN
G 0.700 CausalMutation CLINVAR The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 20142524

2010
dbSNP: rs63750548
rs63750548
GRN
G 0.700 CausalMutation CLINVAR The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 20142524

2010
dbSNP: rs63750548
rs63750548
GRN
G 0.700 CausalMutation CLINVAR Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 18183624

2008
dbSNP: rs63750548
rs63750548
GRN
G 0.700 CausalMutation CLINVAR Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. 17334266

2007
dbSNP: rs63750548
rs63750548
GRN
G 0.700 CausalMutation CLINVAR Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. 17202431

2007
dbSNP: rs63750548
rs63750548
GRN
G 0.700 CausalMutation CLINVAR A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. 17439980

2007
dbSNP: rs1555611412
rs1555611412
GRN
G 0.700 CausalMutation CLINVAR Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 16950801

2006
dbSNP: rs1555611412
rs1555611412
GRN
G 0.700 CausalMutation CLINVAR Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 16862116

2006
dbSNP: rs63750548
rs63750548
GRN
G 0.700 CausalMutation CLINVAR Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 16862116

2006
dbSNP: rs63750548
rs63750548
GRN
G 0.700 CausalMutation CLINVAR Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 16950801

2006
dbSNP: rs63750707
rs63750707
GRN
A 0.700 GeneticVariation CLINVAR Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 16862116

2006
dbSNP: rs63750707
rs63750707
GRN
A 0.700 GeneticVariation CLINVAR Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 16950801

2006
dbSNP: rs63751296
rs63751296
GRN
C 0.700 CausalMutation CLINVAR Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 16950801

2006
dbSNP: rs63751296
rs63751296
GRN
C 0.700 CausalMutation CLINVAR Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 16862116

2006
dbSNP: rs1392550887
rs1392550887
GRN
GC 0.700 CausalMutation CLINVAR

dbSNP: rs1567887496
rs1567887496
GRN
T 0.700 CausalMutation CLINVAR