Gene: NOTCH3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568362252
rs1568362252
NOTCH3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs28933696
rs28933696
NOTCH3
A 0.700 GeneticVariation CLINVAR

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

2013
dbSNP: rs1043994
rs1043994
NOTCH3
0.010 GeneticVariation BEFREE Altogether, 134 Finnish CADASIL patients with p.Arg133Cys mutation were analysed for possible associations between the apolipoprotein E (APOE) genotype, angiotensinogen (AGT) p.Met268Thr polymorphism or neutral p.Ala202Ala NOTCH3 polymorphism and earlier first-ever stroke or migraine. 25819272

2015
dbSNP: rs137852642
rs137852642
NOTCH3
0.010 GeneticVariation BEFREE Altogether, 134 Finnish CADASIL patients with p.Arg133Cys mutation were analysed for possible associations between the apolipoprotein E (APOE) genotype, angiotensinogen (AGT) p.Met268Thr polymorphism or neutral p.Ala202Ala NOTCH3 polymorphism and earlier first-ever stroke or migraine. 25819272

2015
dbSNP: rs3815188
rs3815188
NOTCH3
0.010 GeneticVariation BEFREE Although only significant prior to adjustment for multiple testing, p.T101T (rs3815188; Exon 3) was associated with an increased risk of small-vessel stroke (OR: 1.56, P=0.008) and p.P380P (rs61749020; Exon 7) was associated with decreased risk of large-vessel stroke (OR: 0.35, P=0.047) in Caucasians. 24086431

2013
dbSNP: rs61749020
rs61749020
NOTCH3
0.010 GeneticVariation BEFREE Although only significant prior to adjustment for multiple testing, p.T101T (rs3815188; Exon 3) was associated with an increased risk of small-vessel stroke (OR: 1.56, P=0.008) and p.P380P (rs61749020; Exon 7) was associated with decreased risk of large-vessel stroke (OR: 0.35, P=0.047) in Caucasians. 24086431

2013
dbSNP: rs75068032
rs75068032
NOTCH3
0.010 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
dbSNP: rs1555729486
rs1555729486
NOTCH3
0.010 GeneticVariation BEFREE The C117F mutation was associated with a lower age at death and the C174Y mutation with a lower age at onset for stroke, immobilization and death (adjusted P values <0.05). 15364702

2004
dbSNP: rs773539041
rs773539041
NOTCH3
0.010 GeneticVariation BEFREE The C117F mutation was associated with a lower age at death and the C174Y mutation with a lower age at onset for stroke, immobilization and death (adjusted P values <0.05). 15364702

2004
dbSNP: rs28933698
rs28933698
NOTCH3
0.010 GeneticVariation BEFREE C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. 12136071

2002