Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918098
rs121918098
TTR
0.030 GeneticVariation BEFREE The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis. 30470998

2019
dbSNP: rs121918098
rs121918098
TTR
0.030 GeneticVariation BEFREE Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis. 15377697

2004
dbSNP: rs121918098
rs121918098
TTR
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