rs121918100, TTR

N. diseases: 11
Disease: Dementia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. 26156087 2015
Dementia
CUI: C0497327
Disease: Dementia
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