Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918100
rs121918100
TTR
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.020 GeneticVariation BEFREE Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. 26156087

2015
dbSNP: rs121918100
rs121918100
TTR
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 GeneticVariation BEFREE Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. 26156087

2015
dbSNP: rs121918100
rs121918100
TTR
CUI: C0497327
Disease: Dementia
Dementia 		0.020 GeneticVariation BEFREE Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. 26156087

2015
dbSNP: rs121918100
rs121918100
TTR
CUI: C0497327
Disease: Dementia
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
dbSNP: rs121918100
rs121918100
TTR
CUI: C0011265
Disease: Presenile dementia
Presenile 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
dbSNP: rs121918100
rs121918100
TTR
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 GeneticVariation BEFREE Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. 12771253

2003
dbSNP: rs121918100
rs121918100
TTR
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 GeneticVariation BEFREE We report the neuropathologic findings from a brain autopsy of a 72-year-old man with the rare Tyr69His (Y69H) TTR gene variant, dementia and ataxia. 26156087

2015
dbSNP: rs121918100
rs121918100
TTR
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 GeneticVariation BEFREE We report the neuropathologic findings from a brain autopsy of a 72-year-old man with the rare Tyr69His (Y69H) TTR gene variant, dementia and ataxia. 26156087

2015
dbSNP: rs121918100
rs121918100
TTR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation BEFREE The symptoms at onset differed, but cardiomyopathy and peripheral neuropathy were observed in all except the ATTR Tyr69His mutation. 19922332

2009
dbSNP: rs121918100
rs121918100
TTR
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 GeneticVariation BEFREE The symptoms at onset differed, but cardiomyopathy and peripheral neuropathy were observed in all except the ATTR Tyr69His mutation. 19922332

2009
dbSNP: rs121918100
rs121918100
TTR
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 GeneticVariation BEFREE The symptoms at onset differed, but cardiomyopathy and peripheral neuropathy were observed in all except the ATTR Tyr69His mutation. 19922332

2009
dbSNP: rs121918100
rs121918100
TTR
CUI: C0036572
Disease: Seizures
Seizures 		0.010 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