Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751165
rs63751165
MAPT
0.830 GeneticVariation BEFREE Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. 15615814

2005
dbSNP: rs63751165
rs63751165
MAPT
0.830 GeneticVariation BEFREE Pick's disease pathology of a missense mutation of S305N of frontotemporal dementia and parkinsonism linked to chromosome 17: another phenotype of S305N. 15178939

2004
dbSNP: rs63751165
rs63751165
MAPT
0.830 GeneticVariation BEFREE We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the tau gene. 10208578

1999
dbSNP: rs63751165
rs63751165
MAPT
A 0.830 CausalMutation CLINVAR

dbSNP: rs63751165
rs63751165
MAPT
0.830 GeneticVariation UNIPROT