Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75068032
rs75068032
NOTCH3
0.020 GeneticVariation BEFREE Molecular genetic testing identified a homozygous pathologic variant, c.1672C > T (p. Arg558Cys), in the NOTCH3 gene.The diagnosis of CADASIL was confirmed. 31146726

2019
dbSNP: rs75068032
rs75068032
NOTCH3
0.020 GeneticVariation BEFREE Sequencing of the 269 SWISS probands identified one (0.4%) with small vessel type stroke carrying a known CADASIL mutation (p.R558C; Exon 11). 24086431

2013