Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894866
rs104894866
MID1
0.800 GeneticVariation UNIPROT New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. 11030761

2000
dbSNP: rs104894866
rs104894866
MID1
0.800 GeneticVariation UNIPROT Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 9354791

1997
dbSNP: rs104894866
rs104894866
MID1
0.800 GeneticVariation UNIPROT Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. 9718340

1998
dbSNP: rs104894866
rs104894866
MID1
0.800 GeneticVariation UNIPROT Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 15558842

2005
dbSNP: rs28934611
rs28934611
MID1
0.800 GeneticVariation UNIPROT Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. 9718340

1998
dbSNP: rs28934611
rs28934611
MID1
0.800 GeneticVariation UNIPROT Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 15558842

2005
dbSNP: rs28934611
rs28934611
MID1
0.800 GeneticVariation UNIPROT New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. 11030761

2000
dbSNP: rs28934611
rs28934611
MID1
0.800 GeneticVariation UNIPROT Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 9354791

1997
dbSNP: rs1555894390
rs1555894390
MID1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556001856
rs1556001856
MID1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556001968
rs1556001968
MID1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556003200
rs1556003200
MID1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556004400
rs1556004400
MID1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs11615
rs11615
ERCC1
0.010 GeneticVariation BEFREE From six eligible articles in our study, we found that for ERCC1 rs11615 polymorphism, a significant association was detected between the chemotherapy response and the polymorphism under all three models (dominant model: OR = 2.015, P = 0.005; recessive model: OR = 1.791, P = 0.003; allelic model: OR = 1.677, P = 0.003), and OS patients carrying C allele in rs11615 polymorphism were more likely to response to chemotherapy. 28388903

2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.010 GeneticVariation BEFREE With respect to ERCC2 rs13181 polymorphism, this polymorphism was not correlated with the response to chemotherapy for OS patients under all three models. 28388903

2017
dbSNP: rs1799793
rs1799793
ERCC2
0.010 GeneticVariation BEFREE In terms of ERCC2 rs1799793 polymorphism, this polymorphism was significantly associated with the response to chemotherapy for OS patients under recessive model (OR = 1.337, P = 0.036), and patients with AG + AA genotype in rs1799793 polymorphism were more appropriate to receive chemotherapy. 28388903

2017
dbSNP: rs324148
rs324148
SLC29A1
0.010 GeneticVariation BEFREE Post-induction overall survival (OS) significantly decreased in patients with the CC genotype of rs324148 compared with CT and TT genotypes (hazard ratio [HR] = 2.997 [95% confidence interval (CI): 1.71-5.27]). 25398670

2014
dbSNP: rs104894866
rs104894866
MID1
G 0.800 CausalMutation CLINVAR

dbSNP: rs28934611
rs28934611
MID1
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894865
rs104894865
MID1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555895704
rs1555895704
MID1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555895725
rs1555895725
MID1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1556003095
rs1556003095
MID1
TATCA 0.700 CausalMutation CLINVAR

dbSNP: rs1556004366
rs1556004366
MID1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1569265497
rs1569265497
MID1
T 0.700 CausalMutation CLINVAR