Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2032582
rs2032582
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 GeneticVariation BEFREE The estimated allele frequencies of functional polymorphisms in(of) exon 21 (2677 G>T, Ala893Ser) and exon 26(3435 C>T, Ilel 142I1e) of the MDR] gene were 0.42 and 0.46 in the controls and 0.54 (p=0.035) and 0.60 (p=0.017) in the MSI-H tumors. 11980438

2002

dbSNP: rs2032582
rs2032582
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.020 GeneticVariation BEFREE Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high microsatellite instability. 11980438

2002

dbSNP: rs2032582
rs2032582
CUI: C0004698
Disease: Balkan Nephropathy
Balkan Nephropathy
0.010 GeneticVariation BEFREE The constitutional genotype frequencies of two SNPs (C3435T and G2677T) in the MDR1 gene in 112 healthy control subjects were investigated and compared with those of 96 patients with BEN. 14752243

2004

dbSNP: rs2032582
rs2032582
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 GeneticVariation BEFREE The frequency of each individual SNPs; -41 A > G (intron -1), -145 C > G (exon 1), -129 T > C (exon 1), 1236 T > C (exon 12), 2677 G > T/A (exon 21), 3435 C > T (exon 26), and 4036 A > G (exon 28) did not differ between PD and controls. 15542248

2004

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE This was a case-control analysis of MDR1 C3435T and G2677T SNPs in a large well-characterized Scottish white cohort (335 with ulcerative colitis [UC], 268 with Crohn's disease [CD], and 370 healthy controls). 15685540

2005

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE This was a case-control analysis of MDR1 C3435T and G2677T SNPs in a large well-characterized Scottish white cohort (335 with ulcerative colitis [UC], 268 with Crohn's disease [CD], and 370 healthy controls). 15685540

2005

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE Two polymorphisms (C3435T and G2677T/A) of the multidrug resistance 1 gene have been correlated with the altered P-glycoprotein expression and function in humans, and associated with predisposition to ulcerative colitis and Crohn's disease. 16305727

2005

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE Two polymorphisms (C3435T and G2677T/A) of the multidrug resistance 1 gene have been correlated with the altered P-glycoprotein expression and function in humans, and associated with predisposition to ulcerative colitis and Crohn's disease. 16305727

2005

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE The polymorphism Ala893Ser/Thr (G2677T/A) previously showed significant association with Crohn's disease (CD) and the Ile1145Ile (C3435T) with ulcerative colitis (UC). 16374256

2006

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE The polymorphism Ala893Ser/Thr (G2677T/A) previously showed significant association with Crohn's disease (CD) and the Ile1145Ile (C3435T) with ulcerative colitis (UC). 16374256

2006

dbSNP: rs2032582
rs2032582
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.020 GeneticVariation BEFREE The present study was therefore designed to examine whether the major polymorphisms of MDR1 gene, C3435T and G2677T/A are related to therapeutic response to neuroleptics in the treatment of schizophrenia. 16386826

2006

dbSNP: rs2032582
rs2032582
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE The mdr-1 polymorphism G2677T/A in exon 21 correlates with the paclitaxel response in ovarian cancer and may be important for the function of P-glycoprotein and resistance to paclitaxel and provide useful information for individualized therapy. 16467099

2006

dbSNP: rs2032582
rs2032582
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 GeneticVariation BEFREE The mdr-1 polymorphism G2677T/A in exon 21 correlates with the paclitaxel response in ovarian cancer and may be important for the function of P-glycoprotein and resistance to paclitaxel and provide useful information for individualized therapy. 16467099

2006

dbSNP: rs2032582
rs2032582
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 GeneticVariation BEFREE The mdr-1 polymorphism G2677T/A in exon 21 correlates with the paclitaxel response in ovarian cancer and may be important for the function of P-glycoprotein and resistance to paclitaxel and provide useful information for individualized therapy. 16467099

2006

dbSNP: rs2032582
rs2032582
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.010 GeneticVariation BEFREE Our findings suggest that the MDR1 2677G>T and 3435C>T polymorphisms can be used for predicting treatment response to etoposide-cisplatin chemotherapy in SCLC patients. 16478794

2006

dbSNP: rs2032582
rs2032582
Familial hypercholesterolemia - heterozygous
0.010 GeneticVariation BEFREE Twenty children with HeFH (aged 4.9-15.6 years) and 12 cardiac transplant recipients (aged 4.4-18.7 years and receiving triple immunosuppressive medication) who had participated in previous pharmacokinetic and pharmacodynamic studies with pravastatin were genotyped for the -11187G > A and 521T > C SNPs in the SLCO1B1 gene and for the 2677G > T/A and 3435C > T SNPs in the ABCB1 gene. 16722833

2006

dbSNP: rs2032582
rs2032582
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.040 GeneticVariation BEFREE In this study we have undertaken a meta-analysis of the available findings obtained with two SNPs polymorphism (C3435T and G2677T/A) in IBD; a significant association of 3435T allele and 3435TT genotype has been found with UC (OR = 1.17, P = 0.003 and OR = 1.36, P = 0.017, respectively). 16773678

2006

dbSNP: rs2032582
rs2032582
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE The current results taken together suggest that, aside from other known causes of lung cancer, such as tobacco smoke, the existence of polymorphisms in the ABCB1 gene and, specifically, the presence of the G2677T mutation can be crucial in conferring susceptibility to lung cancer. 17120199

2006

dbSNP: rs2032582
rs2032582
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE The current results taken together suggest that, aside from other known causes of lung cancer, such as tobacco smoke, the existence of polymorphisms in the ABCB1 gene and, specifically, the presence of the G2677T mutation can be crucial in conferring susceptibility to lung cancer. 17120199

2006

dbSNP: rs2032582
rs2032582
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 GeneticVariation BEFREE The current results taken together suggest that, aside from other known causes of lung cancer, such as tobacco smoke, the existence of polymorphisms in the ABCB1 gene and, specifically, the presence of the G2677T mutation can be crucial in conferring susceptibility to lung cancer. 17120199

2006

dbSNP: rs2032582
rs2032582
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The importance of MDR1 SNPs 2677G > T/A in exon 21 and 3435C > T in exon 26 for cancer susceptibility, however, has not yet been clearly defined. 17146660

2007

dbSNP: rs2032582
rs2032582
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE The importance of MDR1 SNPs 2677G > T/A in exon 21 and 3435C > T in exon 26 for cancer susceptibility, however, has not yet been clearly defined. 17146660

2007

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE The distribution of the different genotypes of single nucleotide polymorphisms (SNP) G2677T/A and C3435T of MDR1 exons 21 and 26, respectively, was studied in 154 patients (mean age, 44 yr) who had received CsA to treat severe attacks of steroid resistant UC in 11 centers in France and Belgium. 17206635

2007

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE No significant difference was observed for genotype frequencies for both MDR1 G2677T/A and C3435T polymorphisms on overall disease susceptibility for either CD or UC patients compared with control subjects. 17260353

2007

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE No significant association between G2677T/A polymorphism and any specific subphenotypes was found, nor was there any association with subphenotypic categories of UC and both single nucleotide polymorphisms. 17260353

2007