Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749824
rs63749824
PSEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs63749836
rs63749836
PSEN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63750308
rs63750308
MAPT
G 0.700 CausalMutation CLINVAR

dbSNP: rs63750590
rs63750590
PSEN1
G 0.700 CausalMutation CLINVAR

dbSNP: rs63750635
rs63750635
MAPT
T 0.700 CausalMutation CLINVAR

dbSNP: rs63750912
rs63750912
MAPT
C 0.700 CausalMutation CLINVAR

dbSNP: rs63750972
rs63750972
MAPT
T 0.700 CausalMutation CLINVAR

dbSNP: rs63751035
rs63751035
GRN
C 0.700 CausalMutation CLINVAR

dbSNP: rs63751035
rs63751035
GRN
CTG 0.700 CausalMutation CLINVAR

dbSNP: rs63751223
rs63751223
PSEN1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs63751394
rs63751394
MAPT
C 0.700 CausalMutation CLINVAR

dbSNP: rs794729669
rs794729669
GRN
C 0.700 CausalMutation CLINVAR

dbSNP: rs794729670
rs794729670
GRN
G 0.700 CausalMutation CLINVAR

dbSNP: rs794729671
rs794729671
GRN
GT 0.700 CausalMutation CLINVAR

dbSNP: rs794729672
rs794729672
GRN
GC 0.700 CausalMutation CLINVAR

dbSNP: rs63751287
rs63751287
PSEN1
G 0.710 CausalMutation CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780

2018
dbSNP: rs63751438
rs63751438
MAPT
0.900 GeneticVariation BEFREE Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. 10374757

1999
dbSNP: rs63751438
rs63751438
MAPT
0.900 GeneticVariation BEFREE Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. 12796837

2003
dbSNP: rs63750573
rs63750573
MAPT
0.010 GeneticVariation BEFREE Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene. 15047590

2004
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier. 15489396

2004
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation BEFREE Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation. 17319286

2007
dbSNP: rs387906789
rs387906789
VCP
0.030 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: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques. 25377499

2015
dbSNP: rs751739883
rs751739883
MAPT
0.010 GeneticVariation BEFREE P364S MAPT mutation is characterized clinically by a variable combination of frontotemporal dementia, parkinsonism and motor neurone disease of short duration, and neuropathologically by a widespread uniform distribution of all known neuronal tau inclusions in one family member. 29215752

2018
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE P301L is the tau mutation most frequently observed in patients with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and this mouse model recapitulates the progressive development of glial and neurofibrillary tangles, and associated cerebral atrophy observed in patients. 29568692

2018