Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918351
rs121918351
JAG1
T 0.800 CausalMutation CLINVAR Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome. 25676721

2015
dbSNP: rs121918351
rs121918351
JAG1
T 0.800 CausalMutation CLINVAR Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome. 24748328

2014
dbSNP: rs121918350
rs121918350
JAG1
0.800 GeneticVariation UNIPROT Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA. 23801938

2013
dbSNP: rs121918351
rs121918351
JAG1
0.800 GeneticVariation UNIPROT Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA. 23801938

2013
dbSNP: rs121918352
rs121918352
JAG1
0.800 GeneticVariation UNIPROT Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA. 23801938

2013
dbSNP: rs121918351
rs121918351
JAG1
T 0.800 CausalMutation CLINVAR Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome. 22487239

2012
dbSNP: rs121918350
rs121918350
JAG1
0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010
dbSNP: rs121918351
rs121918351
JAG1
0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010
dbSNP: rs121918352
rs121918352
JAG1
0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010
dbSNP: rs121918350
rs121918350
JAG1
0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836

2006
dbSNP: rs121918351
rs121918351
JAG1
0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836

2006
dbSNP: rs121918352
rs121918352
JAG1
0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836

2006
dbSNP: rs121918350
rs121918350
JAG1
0.800 GeneticVariation UNIPROT Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272

2005
dbSNP: rs121918351
rs121918351
JAG1
0.800 GeneticVariation UNIPROT Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272

2005
dbSNP: rs121918352
rs121918352
JAG1
0.800 GeneticVariation UNIPROT Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272

2005
dbSNP: rs121918350
rs121918350
JAG1
0.800 GeneticVariation UNIPROT Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. 12497640

2003
dbSNP: rs121918351
rs121918351
JAG1
0.800 GeneticVariation UNIPROT Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. 12497640

2003
dbSNP: rs121918352
rs121918352
JAG1
0.800 GeneticVariation UNIPROT Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. 12497640

2003
dbSNP: rs121918350
rs121918350
JAG1
0.800 GeneticVariation UNIPROT DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286

2002
dbSNP: rs121918351
rs121918351
JAG1
T 0.800 CausalMutation CLINVAR DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286

2002
dbSNP: rs121918351
rs121918351
JAG1
0.800 GeneticVariation UNIPROT DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286

2002
dbSNP: rs121918352
rs121918352
JAG1
0.800 GeneticVariation UNIPROT DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286

2002
dbSNP: rs121918350
rs121918350
JAG1
0.800 GeneticVariation UNIPROT Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. 11157803

2001
dbSNP: rs121918350
rs121918350
JAG1
0.800 GeneticVariation UNIPROT Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. 11180599

2001
dbSNP: rs121918350
rs121918350
JAG1
0.800 GeneticVariation UNIPROT Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome. 11139247

2001