Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750635
rs63750635
MAPT
0.020 GeneticVariation BEFREE Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history). 12876142

2003
dbSNP: rs63750635
rs63750635
MAPT
0.020 GeneticVariation BEFREE In this article, we describe a novel missense mutation, S320F, in the tau gene in a family with presenile dementia. 11891833

2002