Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918071
rs121918071
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.800 CausalMutation CLINVAR Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. 26369527

2015
dbSNP: rs121918071
rs121918071
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.800 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918071
rs121918071
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.800 CausalMutation CLINVAR Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred. 9771673

1998
dbSNP: rs121918071
rs121918071
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.800 CausalMutation CLINVAR Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. 7655883

1995
dbSNP: rs121918071
rs121918071
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.800 CausalMutation CLINVAR Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. 7608709

1995
dbSNP: rs121918071
rs121918071
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.800 CausalMutation CLINVAR Transthyretin gene mutations in British and French patients with amyloid neuropathy. 8509786

1993
dbSNP: rs121918071
rs121918071
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.800 CausalMutation CLINVAR Diagnosis of familial amyloidotic polyneuropathy in France. 1981182

1990
dbSNP: rs121918071
rs121918071
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		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