Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1048943
rs1048943
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.010 GeneticVariation BEFREE The Ile462Val AG variant and combined AG and GG variant was significantly associated with VTE, adjusted for age, gender, weight and contraceptives (OR=1.362, 95%CI 1.026, 1.809, p=0.033; OR=1.420, 95% CI 1.081, 1.865, p=0.012, respectively); The AG and GG combined variant was still significantly associated with VTE when adjusting further for smoking (OR=1.344, 95%CI 1.019,1.772, p=0.036) A more than two-fold increase for VTE was associated with the Ile462Val combined variant of AG+GG (OR of 2.805, 95% CI 1.250, 6.293, p=0.012) in the smokers. 20664892

2010

dbSNP: rs1048943
rs1048943
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.040 GeneticVariation BEFREE These results suggest that the genotype of CYP1A1 Ile462Val was associated with the increased risk of uterine leiomyomas in Chinese women. 18763031

2008

dbSNP: rs1048943
rs1048943
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.040 GeneticVariation BEFREE The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-6.345) and rs4680 (Val158Met) (OR 5.675, 95% CI 2.696-11.942) loci on COMT, rs1048943 (Ile462Val) (OR 4.629, 95% CI 2.216-9.672) and rs4646422 (Gly45Asp) (OR 3.240, 95% CI 1.624-6.461) loci on CYP1A1 and rs1065827 (Ala119Ser) (OR 5.635, 95% CI 2.990-10.619) locus on CYP1B1 were the risk factors to UL development and rs1056836 (Leu432Val) (OR 0.188, 95% CI 0.061-0.575) locus on CYB1B1 may be the protective factor to UL. 24777039

2014

dbSNP: rs1048943
rs1048943
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.040 GeneticVariation BEFREE In addition, haplotype analysis revealed that TG haplotype of the Asp449Asp (T/C) and I</span>le462Val</span> (A/G) polymorphisms could increase the UL risk nearly 4.9-fold. 27333216

2016

dbSNP: rs1048943
rs1048943
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.040 GeneticVariation BEFREE We concluded that the carriage of CYP1A1 Ile462Val AG and CYP1B1 Leu 432Val CC genotypes predict the susceptibility to leiomyoma in Egyptian women and they are likely to contribute in the pathogenesis of leiomyoma. 20559649

2011

dbSNP: rs1048943
rs1048943
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma
0.010 GeneticVariation BEFREE The CYP1A1 rs1048943 AG genotype and the combined AG/GG genotypes were associated with increased risk of NHL (OR(AG) = 1.28, 95% CI = 1.07-1.54; OR(AG/GG) = 1.26, 95% CI = 1.06-1.51) and DLBCL (OR(AG) = 1.32, 95% CI = 1.04-1.66; OR(AG/GG) = 1.30, 95% CI = 1.03-1.63), but not T-cell lymphoma. 19899130

2009

dbSNP: rs1048943
rs1048943
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.030 GeneticVariation BEFREE A great number of studies regarding the association between MspI and Ile462Val polymorphisms in the CYP1A1 gene and gastric cancer have been published. 22359202

2012

dbSNP: rs1048943
rs1048943
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.030 GeneticVariation BEFREE We examined the association between single nucleotide polymorphisms (SNPs) of CYP1A1 (rs4646421, rs4646422 and rs1048943), GSTM1 and GSTT1 and gastric cancer risk in Japan. 27062139

2016

dbSNP: rs1048943
rs1048943
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.030 GeneticVariation BEFREE Potential Cytochrome P450s (CYPs) 1A1 MspI, 1A1 Ile462Val</span>, 1A2*1 F, and/or 1A2*1C polymorphisms have been implicated in gastric cancer risk among different ethnicities. 24443269

2014

dbSNP: rs1048943
rs1048943
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1048943
rs1048943
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE These results suggest that the Val allele of CYP1A1 Ile462Val polymorphism and the Pro allele of TP53 Arg72Pro polymorphism contribute to an increased risk of GBC among Japanese women and men, respectively. 17531965

2007

dbSNP: rs1048943
rs1048943
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943

2014

dbSNP: rs1048943
rs1048943
Stage III Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943

2014

dbSNP: rs1048943
rs1048943
Stage III Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE These results suggest that the Val allele of CYP1A1 Ile462Val polymorphism and the Pro allele of TP53 Arg72Pro polymorphism contribute to an increased risk of GBC among Japanese women and men, respectively. 17531965

2007

dbSNP: rs1048943
rs1048943
Stage III Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1048943
rs1048943
Stage IIB Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE These results suggest that the Val allele of CYP1A1 Ile462Val polymorphism and the Pro allele of TP53 Arg72Pro polymorphism contribute to an increased risk of GBC among Japanese women and men, respectively. 17531965

2007

dbSNP: rs1048943
rs1048943
Stage IIB Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1048943
rs1048943
Stage IIB Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943

2014

dbSNP: rs1048943
rs1048943
Stage IIA Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943

2014

dbSNP: rs1048943
rs1048943
Stage IIA Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE These results suggest that the Val allele of CYP1A1 Ile462Val polymorphism and the Pro allele of TP53 Arg72Pro polymorphism contribute to an increased risk of GBC among Japanese women and men, respectively. 17531965

2007

dbSNP: rs1048943
rs1048943
Stage IIA Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1048943
rs1048943
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE These results suggest that the Val allele of CYP1A1 Ile462Val polymorphism and the Pro allele of TP53 Arg72Pro polymorphism contribute to an increased risk of GBC among Japanese women and men, respectively. 17531965

2007

dbSNP: rs1048943
rs1048943
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1048943
rs1048943
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
0.030 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943

2014

dbSNP: rs1048943
rs1048943
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
0.010 GeneticVariation BEFREE CYP1A1 Ile462Val and MPO G-463A interact to increase risk of adenocarcinoma but not squamous cell carcinoma of the lung. 16195240

2006