Gene: NOTCH1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057515422
rs1057515422
NOTCH1
C 0.700 CausalMutation CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138

2016
dbSNP: rs1057515423
rs1057515423
NOTCH1
T 0.700 CausalMutation CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138

2016
dbSNP: rs1057515422
rs1057515422
NOTCH1
C 0.700 CausalMutation CLINVAR Mutations in NOTCH1 cause aortic valve disease. 16025100

2005
dbSNP: rs1057515423
rs1057515423
NOTCH1
T 0.700 CausalMutation CLINVAR Mutations in NOTCH1 cause aortic valve disease. 16025100

2005
dbSNP: rs1057518661
rs1057518661
NOTCH1
C 0.700 CausalMutation CLINVAR

dbSNP: rs41309764
rs41309764
NOTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs41309766
rs41309766
NOTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs61755997
rs61755997
NOTCH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs863224901
rs863224901
NOTCH1
T 0.700 GeneticVariation CLINVAR