Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918076
rs121918076
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		G 0.700 CausalMutation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013
dbSNP: rs121918076
rs121918076
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		G 0.700 CausalMutation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
dbSNP: rs121918076
rs121918076
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		G 0.700 CausalMutation CLINVAR Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. 24053266

2013
dbSNP: rs121918076
rs121918076
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		G 0.700 CausalMutation CLINVAR Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation. 22928869

2012
dbSNP: rs121918076
rs121918076
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.700 CausalMutation CLINVAR Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation. 22928869

2012
dbSNP: rs121918076
rs121918076
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.700 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918076
rs121918076
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.700 CausalMutation CLINVAR The hereditary amyloidoses. 15123043

2003
dbSNP: rs121918076
rs121918076
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.700 CausalMutation CLINVAR Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. 11940682

2002
dbSNP: rs121918076
rs121918076
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.700 CausalMutation CLINVAR Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. 1335038

1992
dbSNP: rs121918076
rs121918076
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		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