Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568791694
rs1568791694
GAAGGCTC 0.700 GeneticVariation CLINVAR JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. 26076142

2015

dbSNP: rs727504412
rs727504412
C 0.700 CausalMutation CLINVAR Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272

2005

dbSNP: rs727504412
rs727504412
C 0.700 CausalMutation CLINVAR DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286

2002

dbSNP: rs727504412
rs727504412
C 0.700 CausalMutation CLINVAR Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 10220506

1999

dbSNP: rs727504412
rs727504412
C 0.700 CausalMutation CLINVAR Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788

1997

dbSNP: rs111033632
rs111033632
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555827650
rs1555827650
A 0.700 CausalMutation CLINVAR

dbSNP: rs312262793
rs312262793
G 0.700 CausalMutation CLINVAR

dbSNP: rs312262794
rs312262794
A 0.700 CausalMutation CLINVAR

dbSNP: rs312262795
rs312262795
A 0.700 CausalMutation CLINVAR

dbSNP: rs312262798
rs312262798
T 0.700 CausalMutation CLINVAR

dbSNP: rs312262799
rs312262799
G 0.700 CausalMutation CLINVAR

dbSNP: rs312262800
rs312262800
A 0.700 CausalMutation CLINVAR

dbSNP: rs312262801
rs312262801
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607591
rs267607591
0.020 GeneticVariation BEFREE We previously reported the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). 27539898

2016

dbSNP: rs267607591
rs267607591
0.020 GeneticVariation BEFREE We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). 25327215

2014

dbSNP: rs1051419
rs1051419
0.010 GeneticVariation BEFREE Our data suggest that gene variations of c.2612C>G, c.2957T>A, and c.3417T>C, especially c.2957T>A, might have contributed to the pathogenesis of Alagille syndrome in these Chinese twin sisters and provided new gene evidences for Alagille syndrome. 26339425

2015

dbSNP: rs1469042326
rs1469042326
0.010 GeneticVariation BEFREE We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). 25327215

2014

dbSNP: rs145895196
rs145895196
0.010 GeneticVariation BEFREE We report on a patient with tetralogy of Fallot (TOF) and clinical features of DG/VCFS, hemizygous for del22q11.2 and heterozygous for the 2810G > A (p.Arg937Gln) mutation in the JAG1 gene associated with Alagille syndrome. 23956173

2013

dbSNP: rs6276
rs6276
0.010 GeneticVariation BEFREE However, we found a significant interaction effect of the SLC6A4 promoter polymorphism (5-HTTLPR) and DRD2 exon 8 single nucleotide polymorphism rs6276 on AWS and/or DT history (P = 0.009), which became more significant after adjustment for lifetime maximum number of drinks consumed per 24 hours (P < 0.001). 20002020

2010

dbSNP: rs28939668
rs28939668
0.010 GeneticVariation BEFREE A specific G274D mutation in the second epidermal growth factor repeat of the Jagged-1 was found to correlate with tetralogy of Fallot symptoms but not with usual Alagille syndrome phenotypes. 19780835

2009

dbSNP: rs29230
rs29230
0.010 GeneticVariation BEFREE As no significant differences were found between the compared groups, this study gave no further evidence for GABABR1 T1974C[rs29230] as a candidate for alcoholism or AWS. 16800828

2006