Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786

1998
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE The Pro301Leu mutation was not observed in either 50 unrelated French controls or in 11 patients with sporadic frontotemporal dementia. 9736786

1998
dbSNP: rs63750570
rs63750570
MAPT
0.850 GeneticVariation UNIPROT Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63750570
rs63750570
MAPT
0.850 GeneticVariation BEFREE The conclusion is that the type and distribution of tau deposits in HFTD1 and HFTD2, the physical structure of filaments, and tau isoform composition in HFTD1 differ from Alzheimer's disease and an FTDP-17 family with a V337M mutation in the tau gene. 9811325

1998
dbSNP: rs63750570
rs63750570
MAPT
0.850 GeneticVariation UNIPROT Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786

1998
dbSNP: rs63750349
rs63750349
MAPT
0.830 GeneticVariation UNIPROT Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63750349
rs63750349
MAPT
0.830 GeneticVariation UNIPROT Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786

1998
dbSNP: rs63750376
rs63750376
MAPT
0.820 GeneticVariation UNIPROT Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786

1998
dbSNP: rs63750376
rs63750376
MAPT
0.820 GeneticVariation UNIPROT Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786

1998
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63750092
rs63750092
MAPT
0.800 GeneticVariation UNIPROT Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63750092
rs63750092
MAPT
0.800 GeneticVariation UNIPROT Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786

1998
dbSNP: rs63750416
rs63750416
MAPT
0.720 GeneticVariation UNIPROT Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786

1998
dbSNP: rs63750416
rs63750416
MAPT
0.720 GeneticVariation UNIPROT Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR Presenilin mutations in Alzheimer's disease. 9521418

1998
dbSNP: rs63750450
rs63750450
PSEN1
G 0.700 CausalMutation CLINVAR Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. 9384602

1998
dbSNP: rs63751011
rs63751011
MAPT
T 0.700 CausalMutation CLINVAR Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. 10374757

1999
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. 10489057

1999
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. 10553987

1999
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. 10489057

1999
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 10412802

1999