Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience. 26428663

2016
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. 22592564

2013
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 GeneticVariation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 GeneticVariation CLINVAR Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset. 23279339

2012
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR The hereditary amyloidoses. 15123043

2003
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. 8721565

1996
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 GeneticVariation CLINVAR Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. 8721565

1996
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. 2046936

1991
dbSNP: rs121918091
rs121918091
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 GeneticVariation CLINVAR Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. 2046936

1991
dbSNP: rs121918091
rs121918091
TTR
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121918091
rs121918091
TTR
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		C 0.700 CausalMutation CLINVAR