Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.090 GeneticVariation BEFREE Association of CYP1A1 gene variants rs4646903 (T>C) and rs1048943 (A>G) with cervical cancer in a North Indian population. 24657182

2014
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.090 GeneticVariation BEFREE Association of CYP1A1 gene variants rs4646903 (T>C) and rs1048943 (A>G) with cervical cancer in a North Indian population. 24657182

2014
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 GeneticVariation BEFREE Associations between CYP1A1 rs1048943 A > G and rs4646903 T > C genetic variations and colorectal cancer risk: Proof from 26 case-control studies. 27384991

2016
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.030 GeneticVariation BEFREE Compared with the previous meta-analysis, the overall data also failed to indicate a significant association of CYP1A1 Ile462Val polymorphism with oral cancer risk (Val/Val vs. Ile/Ile--OR = 1.46; 95 % CI = 0.96-2.24; dominant model--OR = 1.01; 95 % CI = 0.81-1.25; and recessive model--OR = 1.46; 95 % CI = 0.96-2.23). 22847262

2012
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.030 GeneticVariation BEFREE Compared with the previous meta-analysis, the overall data also failed to indicate a significant association of CYP1A1 Ile462Val polymorphism with oral cancer risk (Val/Val vs. Ile/Ile--OR = 1.46; 95 % CI = 0.96-2.24; dominant model--OR = 1.01; 95 % CI = 0.81-1.25; and recessive model--OR = 1.46; 95 % CI = 0.96-2.23). 22847262

2012
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 GeneticVariation BEFREE CYP1A1 (Ile462Val), CYP1B1 (Ala119Ser and Val432Leu), GSTM1 (null), and GSTT1 (null) polymorphisms and bladder cancer risk in a Turkish population. 23886208

2013
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.020 GeneticVariation BEFREE CYP1A1 (Ile462Val), CYP1B1 (Ala119Ser and Val432Leu), GSTM1 (null), and GSTT1 (null) polymorphisms and bladder cancer risk in a Turkish population. 23886208

2013
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.020 GeneticVariation BEFREE CYP1A1 (Ile462Val), CYP1B1 (Ala119Ser and Val432Leu), GSTM1 (null), and GSTT1 (null) polymorphisms and bladder cancer risk in a Turkish population. 23886208

2013
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		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
dbSNP: rs1048943
rs1048943
CYP1A1
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
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.070 GeneticVariation BEFREE CYP1A1 Ile462Val may be an increased risk factor for colorectal cancer. 21246002

2011
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 GeneticVariation BEFREE CYP1A1 Ile462Val may be an increased risk factor for colorectal cancer. 21246002

2011
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 GeneticVariation BEFREE CYP1A1 Ile462Val polymorphism and susceptibility to lung cancer: a meta-analysis based on 32 studies. 22025136

2011
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 GeneticVariation BEFREE CYP1A1 Ile462Val polymorphism and susceptibility to lung cancer: a meta-analysis based on 32 studies. 22025136

2011
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 GeneticVariation BEFREE CYP1A1 Ile462Val polymorphism and susceptibility to lung cancer: a meta-analysis based on 32 studies. 22025136

2011
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.030 GeneticVariation BEFREE CYP1A1 Ile462Val is a risk factor for ovarian cancer development. 22277800

2012
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 GeneticVariation BEFREE CYP1A1 Ile462Val is a risk factor for ovarian cancer development. 22277800

2012
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 GeneticVariation BEFREE CYP1A1 Ile462Val is a risk factor for ovarian cancer development. 22277800

2012
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE CYP1A1 Ile462Val polymorphism contributes to lung cancer susceptibility among lung squamous carcinoma and smokers: a meta-analysis. 22952673

2012
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 GeneticVariation BEFREE CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients. 24939416

2014
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 GeneticVariation BEFREE CYP1A1 I462V polymorphism is associated with reduced genotoxicity in yeast despite positive association with increased cancer risk. 28283091

2017
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 GeneticVariation BEFREE CYP1A1 I462V polymorphism is associated with reduced genotoxicity in yeast despite positive association with increased cancer risk. 28283091

2017
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0031099
Disease: Periodontitis
Periodontitis 		0.010 GeneticVariation BEFREE CYP1A1 rs1048943 polymorphism was reported to be correlated with periodontitis; however, its association with aggressive periodontitis (AgP) has not yet been investigated. 31032950

2019
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 GeneticVariation BEFREE CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI = 1.02-1.92), the GSTM1 deletion polymorphism (OR = 1.38, 95% CI = 1.01-1.89), GSTP1 rs1695 (OR =1.48, 95% CI = 1.04-2.11), ERCC2 rs13181 (OR = 1.89, 95% CI = 1.28-2.78), and Chinese hamster 1 rs25487 (OR = 1.54, 95% CI = 1.12-2.13) were associated with lung cancer risk whereas the GSTT1 deletion polymorphism and XRCC3 rs861539 were not. 22525558

2012
dbSNP: rs1048943
rs1048943
CYP1A1
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 GeneticVariation BEFREE CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI = 1.02-1.92), the GSTM1 deletion polymorphism (OR = 1.38, 95% CI = 1.01-1.89), GSTP1 rs1695 (OR =1.48, 95% CI = 1.04-2.11), ERCC2 rs13181 (OR = 1.89, 95% CI = 1.28-2.78), and Chinese hamster 1 rs25487 (OR = 1.54, 95% CI = 1.12-2.13) were associated with lung cancer risk whereas the GSTT1 deletion polymorphism and XRCC3 rs861539 were not. 22525558

2012