Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555725043
rs1555725043
NOTCH3
G 0.700 CausalMutation CLINVAR Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. 26754023

2016
dbSNP: rs773656789
rs773656789
NOTCH3
TG 0.700 CausalMutation CLINVAR Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 25394726

2015
dbSNP: rs796065045
rs796065045
NOTCH3
A 0.700 CausalMutation CLINVAR Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 25394726

2015
dbSNP: rs869312909
rs869312909
NOTCH3
G 0.700 CausalMutation CLINVAR Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 25394726

2015
dbSNP: rs869312910
rs869312910
NOTCH3
T 0.700 CausalMutation CLINVAR Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 25394726

2015
dbSNP: rs869312911
rs869312911
NOTCH3
C 0.700 CausalMutation CLINVAR Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 25394726

2015
dbSNP: rs1236699193
rs1236699193
NOTCH3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555727841
rs1555727841
NOTCH3 ; MIR6795
T 0.700 GeneticVariation CLINVAR

dbSNP: rs201118034
rs201118034
NOTCH3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs75068032
rs75068032
NOTCH3
A 0.700 CausalMutation CLINVAR

dbSNP: rs775267348
rs775267348
NOTCH3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs777751303
rs777751303
NOTCH3
A 0.700 GeneticVariation CLINVAR