Gene: TTR ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918069
rs121918069
TTR
A 0.820 CausalMutation CLINVAR Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. 2613237

1989
dbSNP: rs121918068
rs121918068
TTR
A 0.810 CausalMutation CLINVAR

dbSNP: rs121918071
rs121918071
TTR
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. 26369527

2015
dbSNP: rs121918071
rs121918071
TTR
A 0.800 CausalMutation CLINVAR Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. 7655883

1995
dbSNP: rs121918071
rs121918071
TTR
A 0.800 CausalMutation CLINVAR Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred. 9771673

1998
dbSNP: rs121918071
rs121918071
TTR
A 0.800 CausalMutation CLINVAR Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. 2891727

1988
dbSNP: rs121918071
rs121918071
TTR
A 0.800 CausalMutation CLINVAR Transthyretin gene mutations in British and French patients with amyloid neuropathy. 8509786

1993
dbSNP: rs121918071
rs121918071
TTR
A 0.800 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918071
rs121918071
TTR
A 0.800 CausalMutation CLINVAR A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. 1997217

1991
dbSNP: rs121918071
rs121918071
TTR
A 0.800 CausalMutation CLINVAR Diagnosis of familial amyloidotic polyneuropathy in France. 1981182

1990
dbSNP: rs121918071
rs121918071
TTR
A 0.800 CausalMutation CLINVAR Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. 7608709

1995
dbSNP: rs121918073
rs121918073
TTR
A 0.800 CausalMutation CLINVAR

dbSNP: rs121918086
rs121918086
TTR
A 0.800 CausalMutation CLINVAR

dbSNP: rs121918093
rs121918093
TTR
A 0.800 CausalMutation CLINVAR

dbSNP: rs387906523
rs387906523
TTR
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894664
rs104894664
TTR
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918074
rs121918074
TTR
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). 2363717

1990
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene. 17577688

2007
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation. 20686303

2010
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. 11940682

2002
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. 1335038

1992
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Ten years of experience with liver transplantation for familial amyloid polyneuropathy in Japan: outcomes of living donor liver transplantations. 16357452

2005
dbSNP: rs121918076
rs121918076
TTR
A 0.700 CausalMutation CLINVAR Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation. 22928869

2012