Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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