Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201118034
rs201118034
0.030 GeneticVariation BEFREE p.R544C <i>NOTCH3</i> mutation is underdiagnosed in stroke patients in Taiwan, especially in those with small vessel occlusion and sibling history of stroke. 30656190

2019

dbSNP: rs201118034
rs201118034
0.030 GeneticVariation BEFREE The purpose of this study is to assess whether CMBs are associated with symptomatic stroke in the CADASIL patients with R544C mutation and to compare the cerebral distribution of CMBs between CADASIL patients with and without symptomatic stroke. 25692567

2015

dbSNP: rs201118034
rs201118034
0.030 GeneticVariation BEFREE Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. 21852154

2013