TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.020 GeneticVariation BEFREE Can echocardiography and ECG discriminate hereditary transthyretin V30M amyloidosis from hypertrophic cardiomyopathy? 26104852 2015
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.020 GeneticVariation BEFREE Three of the 46 cases with HCM carried the Val30Met mutation, and were considered likely to have cardiac amyloidosis, like the index case. 16115295 2005