Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13233308
rs13233308
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936. 31320639 2019
dbSNP: rs56364292
rs56364292
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10264856
rs10264856
Entrez Id: 5243;154661
Gene Symbol: ABCB1;RUNDC3B
ABCB1;RUNDC3B
CUI: C1314691
Disease:
Age at menarche
0.700 GeneticVariation GWASCAT Bivariate Genome-Wide Association Study Implicates ATP6V1G1 as a Novel Pleiotropic Locus Underlying Osteoporosis and Age at Menarche. 26312577 2015
dbSNP: rs13233308
rs13233308
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0036341
Disease:
Schizophrenia
C 0.700 GeneticVariation GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
dbSNP: rs1128501
rs1128501
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C1861502
Disease:
COLCHICINE RESISTANCE
A 0.700 CausalMutation CLINVAR
dbSNP: rs1045642
rs1045642
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0678222
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0009402
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0014544
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0009324
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0009324
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C1096063
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0009402
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0006142
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0010346
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C1096063
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0014544
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C1096063
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0023530
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0023452
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0678222
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0010346
Disease:
Crohn Disease
0.100 GeneticVariation BEFREE We have detected no significant association of C3435T SNP and pediatric CD. 27603561 2016
dbSNP: rs1045642
rs1045642
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0006142
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0678222
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0678222
Disease:
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
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0006142
Disease:
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