Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045642
rs1045642
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In this study, a panel of 5 SNPs, namely ABCC2 (-24C > T/rs717620 and c.4544 G > A/rs8187710), ABCG2 (c.421 C > A/rs2231142), ABCB1 (c.3435 C > T/rs1045642) and SLC31A1 (c.-36 + 2451 T > G/rs10981694), was evaluated to assess their association with grade 2-3 OXPN in metastatic CRC patients. 30713338

2019

dbSNP: rs1045642
rs1045642
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE With regard to the clinical characteristics of BC, the <i>ABCC2</i> SNPs rs2273697 and rs717620 were found to be significantly associated with age at breast cancer diagnosis and breastfeeding status, while the <i>ABCB1</i> SNP rs1045642 was significantly associated with age at breast cancer diagnosis. 31391850

2019

dbSNP: rs1045642
rs1045642
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation BEFREE On the other hand, C allele and CC genotype of C1236T and C3435T, as well as G allele and GG genotype of G2677T/A were more frequent in healthy subjects, implying protective role of these variants in UC. 29543864

2018

dbSNP: rs1045642
rs1045642
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation BEFREE The current study suggests that CYP2D6*4 and MDR1 3435 C/T gene polymorphisms may be risk factors for UC susceptibility. 30551694

2018

dbSNP: rs1045642
rs1045642
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation BEFREE The G2677T T and C3435T T alleles as well as the TT, CTT and TTT haplotypes seemed to be significantly associated with drug-resistance epilepsy in our population. 29198163

2018

dbSNP: rs1045642
rs1045642
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation BEFREE ABCB1 3435C>T and 2677G>T/A polymorphisms in Polish and Bosnian patients with Crohn's disease - A preliminary report. 28759738

2017

dbSNP: rs1045642
rs1045642
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In summary, this meta-analysis provided evidence that MDR1 C3435T polymorphism is associated with a decreased risk of CRC in Asian population. 29390571

2017

dbSNP: rs1045642
rs1045642
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The results suggest that the ABCB1-C3435T gene polymorphism might be a genetic risk factor and a potential biomarker for breast cancer. 28039704

2017

dbSNP: rs1045642
rs1045642
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.100 GeneticVariation BEFREE Associations were found between toxicities and gene variants (P<0.05), including neutropenia with ABCB1 (rs1045642) and SLC0B3 (rs4149117 and rs7311358); and diarrhoea with CYP2C9 (rs1057910), CYP2C19 (rs3758581), UGT1A6 (rs4124874) and SLC22A1 (rs72552763). 28817838

2017

dbSNP: rs1045642
rs1045642
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation BEFREE The relationship between the MDR1 C3435T polymorphism and childhood refractory epilepsy needs further validation. 28284049

2017

dbSNP: rs1045642
rs1045642
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation BEFREE Our results indicate that ABCB1 C3435T polymorphism, especially TT genotype, plays an important role in refractory epilepsy. 28202008

2017

dbSNP: rs1045642
rs1045642
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation BEFREE The results indicate that the C3435T polymorphism of MDR1 gene may be associated with the incidence of DRE observed in the Polish population. 27534401

2017

dbSNP: rs1045642
rs1045642
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation BEFREE Metaanalysis results showed no significant association between C3435T polymorphism and pediatric ALL risk (TT vs. CC: odds ratio [OR] = 1.20, 95% confidence interval [CI] = 0.95-1.52; CT vs. CC: OR = 1.00, 95% CI = 0.82-1.23; the dominant model: OR = 1.07, 95% CI = 0.89-1.29; the recessive model: OR = 1.17, 95% CI = 0.84-1.62). 28845766

2017

dbSNP: rs1045642
rs1045642
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation BEFREE These results suggested that ABCB1 rs1045642 and UGT2B7 rs7439366 may affect OXC pharmacokinetics and therapeutic efficacy in Han Chinese patients with epilepsy. 28837897

2017

dbSNP: rs1045642
rs1045642
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE The results suggest that the ABCB1-C3435T gene polymorphism might be a genetic risk factor and a potential biomarker for breast cancer. 28039704

2017

dbSNP: rs1045642
rs1045642
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We have noted that the implication of C3435T</span> variant on the risk of breast cancer was ethnicity-dependent. 27580695

2016

dbSNP: rs1045642
rs1045642
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation BEFREE We aimed to explore the possible influence of CYP2C9 (*2, *3 and IVS8-109 A>T), CYP2C19 (*2, *3 and *17) and ABCB1 (1236C>T, 2677G>A/T and 3435C>T) on phenytoin (PHT) plasma concentrations in 64 Mexican Mestizo (MM) patients with epilepsy currently treated with PHT in mono- (n=25) and polytherapy (n=39). 26122019

2016

dbSNP: rs1045642
rs1045642
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The present study was aimed to evaluate the possible effects of ABCB1 C3435T and ABCG2 C421A single nucleotide polymorphisms on clinical and pathological outcomes of Kurdish patients with breast cancer. 26700668

2016

dbSNP: rs1045642
rs1045642
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation BEFREE C3435T polymorphism of MDR1 gene was analysed by the high resolution melting technique in a group of patients with drug-resistant (n = 106) and drug-responsive epilepsy (n = 67), as well as in non-epileptic children (n = 98) hospitalised at the Department of Neurology, Polish Mother's Memorial Hospital in Lodz. 27391700

2016

dbSNP: rs1045642
rs1045642
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation BEFREE We have detected no significant association of C3435T SNP and pediatric CD. 27603561

2016

dbSNP: rs1045642
rs1045642
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.100 GeneticVariation BEFREE Individuals who were CC homozygotes at MDR1 rs1045642 had lower risk of having methotrexate plasma concentrations >1 μM and leukopenia grade I (odds ratio [OR] = 0.30; 95% CI = 0.13-0.72 and OR = 0.32; 95% CI = 0.14-0.72, respectively). 27533339

2016

dbSNP: rs1045642
rs1045642
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE We have noted that the implication of C3435T</span> variant on the risk of breast cancer was ethnicity-dependent. 27580695

2016

dbSNP: rs1045642
rs1045642
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE The present study was aimed to evaluate the possible effects of ABCB1 C3435T and ABCG2 C421A single nucleotide polymorphisms on clinical and pathological outcomes of Kurdish patients with breast cancer. 26700668

2016

dbSNP: rs1045642
rs1045642
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Genetic polymorphisms of MDR1 C3435T and G2677A/T, but not C1236T, are associated with increased risk of breast cancer. 26838221

2016

dbSNP: rs1045642
rs1045642
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Genetic polymorphisms of MDR1 C3435T and G2677A/T, but not C1236T, are associated with increased risk of breast cancer. 26838221

2016