Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.030 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0476089
Disease:
Endometrial Carcinoma
0.030 GeneticVariation BEFREE The CYP1B1 and ERalpha genes may play a role in endometrial cancer and the Arg48Gly (142C > G) -CYP1B1 and 975C > G-ERalpha polymorphisms may be considered as independent, early diagnostic markers in this disease. 20492382 2010
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that CYP1B1 Arg48Gly, Ala119Ser and Asn453Ser polymorphisms are not associated with breast cancer risk. 20054638 2010
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0476089
Disease:
Endometrial Carcinoma
0.030 GeneticVariation BEFREE An association of CYP1B1 gene R48G polymorphism with endometrial cancer was found [GG vs. GC+CC: odds ratio (OR)=0.55, 95% confidence interval (CI): 0.42-0.73, P<0.0001; GG vs. CC: OR=0.46, 95% CI: 0.23-0.91, P=0.03]. 21191305 2011
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.030 GeneticVariation BEFREE The CYP1B1 and ERalpha genes may play a role in endometrial cancer and the Arg48Gly (142C > G) -CYP1B1 and 975C > G-ERalpha polymorphisms may be considered as independent, early diagnostic markers in this disease. 20492382 2010
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.030 GeneticVariation BEFREE An association of CYP1B1 gene R48G polymorphism with endometrial cancer was found [GG vs. GC+CC: odds ratio (OR)=0.55, 95% confidence interval (CI): 0.42-0.73, P<0.0001; GG vs. CC: OR=0.46, 95% CI: 0.23-0.91, P=0.03]. 21191305 2011
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that CYP1B1 Arg48Gly, Ala119Ser and Asn453Ser polymorphisms are not associated with breast cancer risk. 20054638 2010
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0476089
Disease:
Endometrial Carcinoma
0.030 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE To examine the association between six SNPs, CYP1A1(*)2A, CYP1A1(*)2C, CYP1A2(*)1F, CYP1B1 Arg(48)Gly, CYP1B1 Leu(432)Val and CYP3A5*3 and breast cancer risk, therefore, we conducted hospital-based case-control studies in Nagano, Japan and São Paulo, Brazil including 873 pairs (403 Japanese (JJ), 81 Japanese Brazilians (JB) and 389 non-Japanese Brazilians (NJB)). 19229255 2009
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE To examine the association between six SNPs, CYP1A1(*)2A, CYP1A1(*)2C, CYP1A2(*)1F, CYP1B1 Arg(48)Gly, CYP1B1 Leu(432)Val and CYP3A5*3 and breast cancer risk, therefore, we conducted hospital-based case-control studies in Nagano, Japan and São Paulo, Brazil including 873 pairs (403 Japanese (JJ), 81 Japanese Brazilians (JB) and 389 non-Japanese Brazilians (NJB)). 19229255 2009
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Haplotypes of rs1056827 and rs10012 or rs1056827 and rs1056836 revealed an association with colorectal cancer which was significantly stronger in the homozygous carriers. 20701755 2010
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE For Arg48Gly, individuals with 48GG genotype had a significantly increased risk of lung cancer compared with individuals with 48CC (OR 3.859; 95% CI 2.536-5.87). 21674184 2012
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE A common C-G-C-C-G-A haplotype for rs2567206-rs2551188-rs2617266-rs10012-rs1056836-rs1800440 showed an inverse association with PCa risk in Hispanic Caucasians (OR = 0.19, P = 0.04, 95% CI = 0.04-0.95) and with aggressive disease status (i.e. 18544568 2008
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE A common C-G-C-C-G-A haplotype for rs2567206-rs2551188-rs2617266-rs10012-rs1056836-rs1800440 showed an inverse association with PCa risk in Hispanic Caucasians (OR = 0.19, P = 0.04, 95% CI = 0.04-0.95) and with aggressive disease status (i.e. 18544568 2008
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE For Arg48Gly, individuals with 48GG genotype had a significantly increased risk of lung cancer compared with individuals with 48CC (OR 3.859; 95% CI 2.536-5.87). 21674184 2012
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE As a result, 15 SNPs on or near 12 genes and one miRNA with strong evidence of association with lung cancer risk were identified, including TERT (rs2736098), CHRNA3 (rs1051730), AGPHD1 (rs8034191), CLPTM1L (rs401681 and rs402710), BAT3 (rs3117582), TRNAA (rs4324798), ERCC2 (Lys751Gln), miR-146a2 (rs2910164), CYP1B1 (Arg48Gly), GSTM1 (null/present), SOD2 (C47T), IL-10 (-592C/A and -819C/T), and TP53 (intron 6). 29110844 2017
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.020 GeneticVariation BEFREE Haplotypes of rs1056827 and rs10012 or rs1056827 and rs1056836 revealed an association with colorectal cancer which was significantly stronger in the homozygous carriers. 20701755 2010
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0684249
Disease:
Carcinoma of lung
0.020 GeneticVariation BEFREE As a result, 15 SNPs on or near 12 genes and one miRNA with strong evidence of association with lung cancer risk were identified, including TERT (rs2736098), CHRNA3 (rs1051730), AGPHD1 (rs8034191), CLPTM1L (rs401681 and rs402710), BAT3 (rs3117582), TRNAA (rs4324798), ERCC2 (Lys751Gln), miR-146a2 (rs2910164), CYP1B1 (Arg48Gly), GSTM1 (null/present), SOD2 (C47T), IL-10 (-592C/A and -819C/T), and TP53 (intron 6). 29110844 2017
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE In summary, this meta-analysis indicates that CYP1A2*F, CYP1B1 Leu432Val, Asn453Ser, and Arg48Gly polymorphisms do not support an association with colorectal cancer, and further studies are needed to investigate the association. 25115775 2014
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.020 GeneticVariation BEFREE In summary, this meta-analysis indicates that CYP1A2*F, CYP1B1 Leu432Val, Asn453Ser, and Arg48Gly polymorphisms do not support an association with colorectal cancer, and further studies are needed to investigate the association. 25115775 2014
dbSNP: rs10012
rs10012
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE As a result, 15 SNPs on or near 12 genes and one miRNA with strong evidence of association with lung cancer risk were identified, including TERT (rs2736098), CHRNA3 (rs1051730), AGPHD1 (rs8034191), CLPTM1L (rs401681 and rs402710), BAT3 (rs3117582), TRNAA (rs4324798), ERCC2 (Lys751Gln), miR-146a2 (rs2910164), CYP1B1 (Arg48Gly), GSTM1 (null/present), SOD2 (C47T), IL-10 (-592C/A and -819C/T), and TP53 (intron 6). 29110844 2017