rs76992529, TTR

N. diseases: 36
Disease: Hereditary cardiac amyloidosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary cardiac amyloidosis
CUI: C1719315
Disease: Hereditary cardiac amyloidosis
0.020 GeneticVariation BEFREE Up to 4% of African-Americans carry the Val122Ile mutation in the transthyretin gene, the most prevalent cause of hereditary cardiac amyloidosis in the USA. 28840452 2017
Hereditary cardiac amyloidosis
CUI: C1719315
Disease: Hereditary cardiac amyloidosis
0.020 GeneticVariation BEFREE The commonest form of hereditary cardiac amyloidosis is associated with the Val122Ile variant of transthyretin (TTR), which is carried by 3-4% of the African American population. 18318779 2008