Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918083
rs121918083
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 GeneticVariation CLINVAR SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. 19372189

2009
dbSNP: rs121918083
rs121918083
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 GeneticVariation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918083
rs121918083
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 GeneticVariation CLINVAR Cysteine 10 is a key residue in amyloidogenesis of human transthyretin Val30Met. 14695346

2004
dbSNP: rs121918083
rs121918083
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 GeneticVariation CLINVAR Low plasma concentrations of retinol-binding protein in individuals with mutations affecting position 84 of the transthyretin molecule. 7656439

1995
dbSNP: rs121918083
rs121918083
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 GeneticVariation CLINVAR A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. 1362222

1992
dbSNP: rs121918083
rs121918083
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR