rs1568791694
|
|
GAAGGCTC |
0.700 |
GeneticVariation |
CLINVAR |
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
|
26076142 |
2015 |
rs727504412
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
|
15712272 |
2005 |
rs727504412
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
|
12442286 |
2002 |
rs727504412
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.
|
10220506 |
1999 |
rs727504412
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
|
9207788 |
1997 |
rs111033632
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555827650
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs312262793
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs312262794
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs312262795
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs312262798
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs312262799
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs312262800
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs312262801
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267607591
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We previously reported the first Japanese case of APS/AWS with a LMNA mutation (p.D300N).
|
27539898 |
2016 |
rs267607591
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N).
|
25327215 |
2014 |
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 |
rs1469042326
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N).
|
25327215 |
2014 |
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 |
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 |
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 |
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 |