Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0026764
Disease:
Multiple Myeloma
0.010 GeneticVariation BEFREE The contribution of <i>ABCG2</i> G34A and C421A polymorphisms to multiple myeloma susceptibility. 30881020 2019
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0026764
Disease:
Multiple Myeloma
0.010 GeneticVariation BEFREE Preliminary studies indicate that SNP C421A may become a potential predictor for the development of multiple myeloma. 30881020 2019
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE Regarding interaction with environmental factors, <i>ABCG2</i> rs2231142 and the first-degree family history of cancer and <i>XPC</i> rs2607775 or <i>ABCG2</i> rs2622621 and lymph node metastases status demonstrated significant interactions. 30643454 2019
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0022650
Disease:
Kidney Calculi
0.010 GeneticVariation BEFREE ABCG2 SNP rs2231142 and the gout comorbidities including nephrolithiasis and CKD were associated (<i>P</i> = 0.014 and <i>P</i> = 0.026). 31367212 2019
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE No significant interaction between SLC2A9 rs7678287 and ABCG2 rs2231142 genotypes and obesity was observed. 30305239 2019
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0149896
Disease:
Primary gout
0.010 GeneticVariation BEFREE ABCG2 gene polymorphism rs2231142 is associated with gout comorbidities but not allopurinol response in primary gout patients of a Chinese Han male population. 31367212 2019
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0392525
Disease:
Nephrolithiasis
0.010 GeneticVariation BEFREE ABCG2 SNP rs2231142 and the gout comorbidities including nephrolithiasis and CKD were associated (<i>P</i> = 0.014 and <i>P</i> = 0.026). 31367212 2019
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Although SUA levels were associated with premature CAD, metabolic syndrome and decreased glomerular filtration rate (eGFR), only ABCG2 rs2231142 was associated with decreased eGFR in the premature CAD group. 30305239 2019
dbSNP: rs2622621
rs2622621
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE In the stratification analysis, <i>XPA</i> rs10817938 CT/CC, rs2231142 CA/AA, and rs2622621 CC genotypes of <i>ABCG2</i> were predictive of significantly better prognosis in the patients with tumor differentiation grade 3 (n=523), clinical stage IV (n=73), or lymph node-positive status (n=557). 30643454 2019
dbSNP: rs2622621
rs2622621
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE Regarding interaction with environmental factors, <i>ABCG2</i> rs2231142 and the first-degree family history of cancer and <i>XPC</i> rs2607775 or <i>ABCG2</i> rs2622621 and lymph node metastases status demonstrated significant interactions. 30643454 2019
dbSNP: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C1167791
Disease:
Skin toxicity
0.010 GeneticVariation BEFREE While the ABCG2 C421A polymorphism might not be a reliable marker of gefitinib-related toxicity, the ABCG2 G34A genotype may be predictive of the skin toxicity of gefitinib in NSCLC patients. 29440914 2018
dbSNP: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE However, more reliable data are required to confirm the associations between the ABCG2 C421A and ABCG2 G34A polymorphisms and the toxicity of gefitinib in NSCLC patients. 29440914 2018
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0023374
Disease:
Lesch-Nyhan Syndrome
0.010 GeneticVariation BEFREE No relationship between rs2231142 in the ABCG2 gene or rs11231825 in the URAT1 gene and serum urate levels or allopurinol response was found in our patients with HPRT deficiency. 29879316 2018
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0278498
Disease:
Malignant neoplasm of stomach stage IV
0.010 GeneticVariation BEFREE The present retrospective study enrolled 108 Chinese patients with MGC receiving EOF as first-line chemotherapy, and genotyped six single nucleotide polymorphisms (SNPs) in four hypoxia-associated genes [myoglobin (MB) rs7292 and rs7293, ATP Binding Cassette Subfamily G Member 2 rs2231142, MutL homolog 1 (MLH1) rs1800734 and rs9852810, and Poly(ADP-Ribose) Polymerase 1 rs1136410]. 29399184 2018
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C1167791
Disease:
Skin toxicity
0.010 GeneticVariation BEFREE A dominant model showed that there was no significant association between the ABCG2 C421A polymorphism and the risk of gefitinib-induced toxicity, while the ABCG2 G34A polymorphism might be associated with an increased risk of skin toxicity in gefitinib therapy (relative risk =1.54, 95% CI 1.08-2.21, <i>P</i>=0.02). 29440914 2018
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0027497
Disease:
Nausea
0.010 GeneticVariation BEFREE Multivariate logistic regression analysis revealed that the ABCG2 (rs2231142) AA genotype is significantly associated with acute significant nausea (odds ratio, 4.87; 95% confidence interval, 1.01-23.60; P = .049). 28735677 2018
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE We investigated associations between single-nucleotide polymorphism (SNP) of the ATP-binding cassette efflux transporter gene <i>ABCG2</i> (rs2231142), BP, and arterial stiffness in RA patients treated with MTX. 30519074 2018
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE However, more reliable data are required to confirm the associations between the ABCG2 C421A and ABCG2 G34A polymorphisms and the toxicity of gefitinib in NSCLC patients. 29440914 2018
dbSNP: rs72552713
rs72552713
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0740394
Disease:
Hyperuricemia
0.010 GeneticVariation BEFREE Adenosine 5'-triphosphate-binding cassette subfamily G member 2 (ABCG2) is a urate transporter, and common dysfunctional variants of ABCG2, non-functional Q126X (rs72552713) and semi-functional Q141K (rs2231142), are risk factors for hyperuricemia and gout. 29342419 2018
dbSNP: rs10011796
rs10011796
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0221248
Disease:
Tophus
0.010 GeneticVariation BEFREE However, the risk alleles for both ABCG2 single nucleotide polymorphisms (SNPs) were present more frequently in those with tophi (OR (95% CI) 1.24 (1.02-1.51) for rs2231142 and 1.33 (1.01-1.74) for rs10011796, p < 0.05 for both). 28270222 2017
dbSNP: rs2054576
rs2054576
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0740394
Disease:
Hyperuricemia
0.010 GeneticVariation BEFREE We identified a hyperuricemia susceptible loci (rs2054576 in ABCG2, OR, 1.883; P = 4.7 × 10⁻⁸) that passed a genome-wide significance threshold, adjusted by clinical variables (male, age, BMI, current alcohol, and creatinine). 28776340 2017
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0221248
Disease:
Tophus
0.010 GeneticVariation BEFREE However, the risk alleles for both ABCG2 single nucleotide polymorphisms (SNPs) were present more frequently in those with tophi (OR (95% CI) 1.24 (1.02-1.51) for rs2231142 and 1.33 (1.01-1.74) for rs10011796, p < 0.05 for both). 28270222 2017
dbSNP: rs3114020
rs3114020
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Further stepwise regression analysis suggested that rs3114020</span> was an independent risk f</span>actor for the prognosis of NSCLC. 26951883 2017
dbSNP: rs3114020
rs3114020
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE Our findings show that ABCG2 rs3114020 might be one of the candidate biomarkers for NSCLC survival in this Chinese population, especially among patients with adenocarcinoma. 26951883 2017
dbSNP: rs761675397
rs761675397
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0020443
Disease:
Hypercholesterolemia
0.010 GeneticVariation BEFREE This study demonstrated that SLCO2B1 c.935G>A (rs12422149) polymorphism influenced the lipid-lowering effects of rosuvastatin in volunteers with hypercholesterolaemia. 28627804 2017