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: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.030 GeneticVariation BEFREE No differences were observed according to ABCG2 Q141K and V12M genotype in patient characteristics, disease characteristics, response, survival, or hematology toxicity profiles in patients with DLBCL who received frontline R-CHOP chemotherapy. 19032367 2008
dbSNP: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.030 GeneticVariation BEFREE Cox proportional hazards analyses demonstrated that the GG genotype of <i>ABCG2</i> rs2231137 and <i>NCF4</i> rs1883112 were risk factors in DLBCL patients. 28938556 2017
dbSNP: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.030 GeneticVariation BEFREE These results suggest that the BCRP G34A and C421A polymorphisms are associated with the risk and survival of DLBCL. 17494054 2007
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE Patients with AA genotype of ABCG2 C421A were at higher risk of progressing breas</span>t cancer. 26700668 2016
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0011991
Disease:
Diarrhea
0.030 GeneticVariation BEFREE One variant, a common functional single-nucleotide polymorphism (SNP) in the ABCG2 gene, was associated with diarrhea in 124 patients treated with oral gefitinib 250 mg once daily; seven (44%) of 16 patients heterozygous for ABCG2 421C>A (Q141K) developed diarrhea, versus only 13 (12%) of 108 patients homozygous for the wild-type sequence (P = .0046). 17148776 2006
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0524620
Disease:
Metabolic Syndrome X
0.030 GeneticVariation BEFREE We studied the associations between the serum uric acid concentration and the following: (i) demographic, anthropometric and other variables previously reported to be associated with serum uric acid concentrations; (ii) the presence of metabolic syndrome and the levels of metabolic syndrome components; and (iii) selected genetic variants of the MTHFR (c.665C>T, c.1286A>C), SLC2A9 (c.844G>A, c.881G>A) and ABCG2 genes (c.421C>A). 24827988 2014
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE We found that ABCG2 G34A GA/AA genotype, C421A AA genotype, and haplotypes 34A-421C and 34G-421A were significantly associated with increased risk for developing breast carcinoma. 26634205 2015
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0524620
Disease:
Metabolic Syndrome X
0.030 GeneticVariation BEFREE Despite the lack of statistical significance, both SNPs exhibited a trend with increased MetS risk (rs11722228, OR = 1.06, 95 % CI 0.99-1.14; rs2231142, OR = 1.02, 95 % CI 0.95-1.10), consistent with their increasing uric acid effects. 23864233 2013
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0524620
Disease:
Metabolic Syndrome X
0.030 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: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0011991
Disease:
Diarrhea
0.030 GeneticVariation BEFREE This study demonstrates that the ABCG2 Q141K </span>polymorphism may correlate with chemotherapy-induced di</span>arrhea in patients with DLBCL who have received frontline R-CHOP chemotherapy, and this has implications for optimizing treatment with such agents. 19032367 2008
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0011991
Disease:
Diarrhea
0.030 GeneticVariation BEFREE Particularly, the afatinib plasma concentration was higher and diarrhea was more severe in patients carrying the A allele of ABCG2 C421A. 31319966 2019
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. 17180579 2007
dbSNP: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE Our findings identified the rs2231137C > T and rs2231142G > T polymorphisms of the ABCG<sub>2</sub> as risk factors for ischemic stroke in a Chinese population. 29900524 2018
dbSNP: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE The Val12Met SNP in ABCG2 (encoding a transporter of sterols and xenobiotics) was associated with incident ischemic stroke in white and black participants of CHS. 19023099 2009
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0014544
Disease:
Epilepsy
0.020 GeneticVariation BEFREE These results suggested that the polymorphisms of OCT1 rs628031 and ABCG2 rs2231142 may affect LTG metabolism in Chinese patients with epilepsy. 27610747 2016
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE In conclusion, the Q141K variant plays contrasting roles in prostate cancer: 1) by decreasing folate efflux, increased intracellular folate levels result in enhanced tumor cell proliferation and therefore time to recurrence decreases; and 2) in patients treated with docetaxel, by decreasing its efflux, intratumoral docetaxel levels and tumor cell drug sensitivity increase and therefore patient survival time increases. 28300564 2017
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Patients with AA genotype of ABCG2 C421A were at higher risk of progressing breas</span>t cancer. 26700668 2016
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.020 GeneticVariation BEFREE This study demonstrates that the ABCG2 Q141K polymorphism may correlate with chemotherapy-induced diarrhea in patients with DLBCL who have received frontline R-CHOP chemotherapy, and this has implications for optimizing treatment with such agents. 19032367 2008
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE No associations were observed between the BCRP C421A polymorphism and clinicopathologic or epidemiologic factors, including age, gender, tumor grade, stage, cigarette smoking, family history of cancer and body mass index. 15906349 2005
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.020 GeneticVariation BEFREE These results suggest that the BCRP G34A and C421A polymorphisms are associated with the risk and survival of DLBCL. 17494054 2007
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE In terms of pathological characteristics, the <i>ABCC1</i> SNP rs35628 and the <i>ABCB1</i> SNP rs2032582 were significantly associated with tumor size, the <i>ABCC2</i> SNP rs2273697 was significantly associated with estrogen receptor status, and the <i>ABCG2</i> SNP rs2231142 was significantly associated with axillary lymph node status. 31391850 2019
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE Increased exposure to PhIP may decrease survival, but the ABCG2 C421A polymorphism does not appear to increase the risk of prostate cancer. 18710444 2008
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE In conclusion, the Q141K variant plays contrasting roles in prostate cancer: 1) by decreasing folate efflux, increased intracellular folate levels result in enhanced tumor cell proliferation and therefore time to recurrence decreases; and 2) in patients treated with docetaxel, by decreasing its efflux, intratumoral docetaxel levels and tumor cell drug sensitivity increase and therefore patient survival time increases. 28300564 2017
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0014544
Disease:
Epilepsy
0.020 GeneticVariation BEFREE Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady-state disposition of lamotrigine in adults with epilepsy. 29791014 2018
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. 17180579 2007