Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918100
rs121918100
TTR
0.020 GeneticVariation BEFREE Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. 26156087

2015
dbSNP: rs121918100
rs121918100
TTR
0.020 GeneticVariation BEFREE The phenotype of the ATTR Tyr69His mutation was characterised by oculo-meningeal symptoms with seizures and a steadily progressing dementia, symptoms rarely found in ATTR amyloidosis, but similar to those previously described for this mutation, where all cases appear to originate from one Swedish family. 19922332

2009