rs121918098, TTR

N. diseases: 7
Disease: Amyloidosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis. 30470998 2019
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis. 15377697 2004
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE Selected small molecule tetramer stabilizers can transform D18G from a monomeric aggregation-prone state to a nonamyloidogenic tetramer, which may prove to be a useful therapeutic strategy against TTR-associated CNS amyloidosis. 12779320 2003