Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918079
rs121918079
TTR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 GeneticVariation BEFREE Our study offers new insights on the negative impact of S-homocysteinylation on L55P-TTR stability, whose aggregation is considered the causative agent of a form of early-onset familial amyloid polyneuropathy and cardiomyopathy. 31676294

2020
dbSNP: rs121918079
rs121918079
TTR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 GeneticVariation BEFREE The L55P mutation linked to aggressive early onset cardiomyopathy and polyneuropathy induces substantial structural perturbations in both the DAGH and CBEF β-sheets, whereas the V30M polyneuropathy-linked substitution perturbs primarily the CBEF sheet. 29972637

2018