Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2231142
rs2231142
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0376358
Disease:
Malignant neoplasm of prostate
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: 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: rs1185675198
rs1185675198
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans. 21655989 2011
dbSNP: rs1185675198
rs1185675198
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans. 21655989 2011
dbSNP: rs1305398818
rs1305398818
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The effect of the protein S100P on biological characteristics of cancer is not clear, especially in gastric cancer. 23736016 2013
dbSNP: rs1305398818
rs1305398818
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The effect of the protein S100P on biological characteristics of cancer is not clear, especially in gastric cancer. 23736016 2013
dbSNP: rs1305398818
rs1305398818
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE To study the possible mechanisms of S100P enhanced the chemosensitivity to oxaliplatin in gastric cancer cell lines. 23736016 2013
dbSNP: rs1305398818
rs1305398818
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE To study the possible mechanisms of S100P enhanced the chemosensitivity to oxaliplatin in gastric cancer cell lines. 23736016 2013
dbSNP: rs1481012
rs1481012
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE We found that heterozygous carriers of the minor alleles of SNPs rs2622621 and rs1481012 had a decreased risk of CRC, respectively, with odds ratios of 0.73 (95% confidence interval 0.56-0.94; P(value)=0.017), and 0.72 (95% CI 0.53-0.97; P(value)=0.03). 18775442 2008
dbSNP: rs199976573
rs199976573
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0024121
Disease:
Lung Neoplasms
0.010 GeneticVariation BEFREE Moreover, Klf5 is not required for lung tumor formation in an inducible oncogenic K-Ras(G12D) mouse model of lung tumorigenesis, and non-small cell lung cancer patients expressing high levels of KLF5 (21/258) have a significantly better disease-specific survival than those with intermediate to no KLF5 expression. 20639455 2010
dbSNP: rs199976573
rs199976573
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE These data suggest that resveratrol inhibits pancreatic cancer stem cell characteristics in human and Kras(G12D) transgenic mice by inhibiting pluripotency maintaining factors and epithelial-mesenchymal transition. 21304978 2011
dbSNP: rs199976573
rs199976573
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Resveratrol inhibits the self-renewal capacity of pancreatic CSCs derived from human primary tumors and Kras(G12D) mice. 21304978 2011
dbSNP: rs199976573
rs199976573
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0235974
Disease:
Pancreatic carcinoma
0.010 GeneticVariation BEFREE These data suggest that resveratrol inhibits pancreatic cancer stem cell characteristics in human and Kras(G12D) transgenic mice by inhibiting pluripotency maintaining factors and epithelial-mesenchymal transition. 21304978 2011
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: rs2199936
rs2199936
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Model covariates, age (P = 5.95E-06), sex (P = 2.46E-39), diabetes (P = 2.34E-07), BMI (P = 1.14E-11) and the SNPs, rs1967017 (P = 9.54E-03), rs13129697 (P = 4.34E-07), rs2199936 (P = 7.28E-03) and rs675209 (P = 4.84E-02) were all associated with incident gout. 26427508 2016
dbSNP: rs2199936
rs2199936
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Model covariates, age (P = 5.95E-06), sex (P = 2.46E-39), diabetes (P = 2.34E-07), BMI (P = 1.14E-11) and the SNPs, rs1967017 (P = 9.54E-03), rs13129697 (P = 4.34E-07), rs2199936 (P = 7.28E-03) and rs675209 (P = 4.84E-02) were all associated with incident gout. 26427508 2016
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: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE To investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients. 18243305 2008
dbSNP: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0018099
Disease:
Gout
0.010 GeneticVariation BEFREE The A allele frequency for V12M was lower (18.3%) in the gout patients than in the controls (29%) (OR 0.55, 95% CI 0.43-0.71, p=2.55×10⁻⁶). 24857923 2014
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: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0018816
Disease:
Heart Septal Defects
0.010 GeneticVariation BEFREE In conclusion, 34G>A polymorphism in the ABCG2 gene of the children is associated with isolated septal defects in a Han Chinese population, presumably through regulation of BCRP expression in the placenta. 24979295 2014
dbSNP: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0744466
Disease:
gout tophaceous
0.010 GeneticVariation BEFREE The missense variations V12M (C) and Q141K (T) significantly associated with tophaceous gout (p trend=4.08×10(-2), 9.00×10(-12) in Han; 1.81×10(-3), 9.34×10(-10) in Aborigines). 24532835 2014
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: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0038454
Disease:
Cerebrovascular accident
0.010 GeneticVariation BEFREE The Val12Met SNP in ABCG2 was associated with stroke in both white (hazard ratio, 1.46; 90% CI, 1.05 to 2.03) and black (hazard ratio, 3.59; 90% CI, 1.11 to 11.6) participants of CHS. 19023099 2009
dbSNP: rs2231137
rs2231137
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0011991
Disease:
Diarrhea
0.010 GeneticVariation BEFREE ABCG2 34G>A was associated with a threefold increased risk of irinotecan-induced diarrhea (95% CI: 1.00-6.24; p = 0.05). 27269636 2016