Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751243
rs63751243
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
0.800 GeneticVariation UNIPROT
dbSNP: rs5848
rs5848
Entrez Id: 2896;284069
Gene Symbol: GRN;FAM171A2
GRN;FAM171A2
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
0.010 GeneticVariation BEFREE A single nucleotide polymorphism in the 3'-untranslated region of the progranulin gene (GRN; 3'UTR+78C>T; rs5848) was reported to alter the risk for frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). rs5848 is located within a micro-RNA binding site and affects the expression of GRN. 19473366 2009
dbSNP: rs63751243
rs63751243
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
A 0.800 CausalMutation CLINVAR
dbSNP: rs606231221
rs606231221
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
A 0.700 CausalMutation CLINVAR
dbSNP: rs63749817
rs63749817
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
A 0.700 CausalMutation CLINVAR
dbSNP: rs63750331
rs63750331
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
A 0.700 CausalMutation CLINVAR
dbSNP: rs63750707
rs63750707
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
A 0.700 GeneticVariation CLINVAR Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 16950801 2006
dbSNP: rs63750707
rs63750707
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
A 0.700 GeneticVariation CLINVAR Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 16862116 2006
dbSNP: rs63750707
rs63750707
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
A 0.700 GeneticVariation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501 2012
dbSNP: rs1555611256
rs1555611256
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR
dbSNP: rs63749877
rs63749877
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR
dbSNP: rs63751006
rs63751006
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR
dbSNP: rs63751035
rs63751035
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR
dbSNP: rs63751085
rs63751085
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR
dbSNP: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 16950801 2006
dbSNP: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501 2012
dbSNP: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 16862116 2006
dbSNP: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
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
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
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: rs63749905
rs63749905
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
CA 0.700 CausalMutation CLINVAR
dbSNP: rs1555611412
rs1555611412
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
G 0.700 CausalMutation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501 2012
dbSNP: rs1555611412
rs1555611412
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
G 0.700 CausalMutation CLINVAR The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 20142524 2010
dbSNP: rs1555611412
rs1555611412
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
G 0.700 CausalMutation CLINVAR Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 16950801 2006
dbSNP: rs1555611412
rs1555611412
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
G 0.700 CausalMutation CLINVAR Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. 21482928 2011
dbSNP: rs1555611412
rs1555611412
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
G 0.700 CausalMutation CLINVAR Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 16862116 2006