Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1048943
rs1048943
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
0.040 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 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 We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1048943
rs1048943
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
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 We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

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 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.080 GeneticVariation BEFREE We investigated the associations between two CYP1A1 polymorphisms (Ile462Val and Thr461Asn) and one CYP1B1 polymorphism (Leu432Val) and breast cancer risk. 17063266

2007

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE We investigated the associations between two CYP1A1 polymorphisms (Ile462Val and Thr461Asn) and one CYP1B1 polymorphism (Leu432Val) and breast cancer risk. 17063266

2007

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE We here carried out a population based case-control study of the CYP MspI (CYP1A1*1/M1) and Ile462Val (CYP1A1*2/M2) polymorphisms in CYP1A1 to clarify their importance in determining breast cancer susceptibility in a South Indian population. 22292665

2011

dbSNP: rs1048943
rs1048943
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.080 GeneticVariation BEFREE We here carried out a population based case-control study of the CYP MspI (CYP1A1*1/M1) and Ile462Val (CYP1A1*2/M2) polymorphisms in CYP1A1 to clarify their importance in determining breast cancer susceptibility in a South Indian population. 22292665

2011

dbSNP: rs1048943
rs1048943
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.080 GeneticVariation BEFREE We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. 23000097

2013

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. 23000097

2013

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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
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: C0027651
Disease: Neoplasms
Neoplasms
0.020 GeneticVariation BEFREE We evaluated potential associations between smoking and polymorphisms in PAH metabolism [CYP1A1 Ile 462Val, CYP1B1 Ala 119Ser and Leu 432Val, microsomal epoxide hydrolase (mEH) Tyr 113His and His139Arg, CYP3A4 A(-392)G] and conjugation [glutathione S-transferase (GST) M1 null deletion, GSTP1 Ile 105Val] genes and PAH-DNA adduct levels (measured by immunohistochemistry) in tumor and nontumor prostate cells in 400 prostate cancer cases. 17548691

2007

dbSNP: rs1048943
rs1048943
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.030 GeneticVariation BEFREE We did not observe any statistically significant associations between the MspI, Thr461Asn or Ile462Val polymorphisms and endometrial cancer risk or any significant effect modification by cigarette-smoking status. 17717632

2007

dbSNP: rs1048943
rs1048943
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.030 GeneticVariation BEFREE We did not observe any statistically significant associations between the MspI, Thr461Asn or Ile462Val polymorphisms and endometrial cancer risk or any significant effect modification by cigarette-smoking status. 17717632

2007

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: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.010 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 GeneticVariation BEFREE Variant alleles found to increase the risk of developing TCa were CYP1A1*2C (rs1048943), GSTP1 (rs1695), and GSTT1null, especially when in conjunction with a cancer family history and/or a smoking habit. 31107374

2019

dbSNP: rs1048943
rs1048943
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 GeneticVariation BEFREE Variant alleles found to increase the risk of developing TCa were CYP1A1*2C (rs1048943), GSTP1 (rs1695), and GSTT1null, especially when in conjunction with a cancer family history and/or a smoking habit. 31107374

2019

dbSNP: rs1048943
rs1048943
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis
0.010 GeneticVariation BEFREE Variant alleles found to increase the risk of developing TCa were CYP1A1*2C (rs1048943), GSTP1 (rs1695), and GSTT1null, especially when in conjunction with a cancer family history and/or a smoking habit. 31107374

2019

dbSNP: rs1048943
rs1048943
Malignant Testicular Germ Cell Tumor
0.010 GeneticVariation BEFREE Variant alleles found to increase the risk of developing TCa were CYP1A1*2C (rs1048943), GSTP1 (rs1695), and GSTT1null, especially when in conjunction with a cancer family history and/or a smoking habit. 31107374

2019

dbSNP: rs1048943
rs1048943
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.050 GeneticVariation BEFREE To investigate this, we studied the association between prostate cancer and smoking, as well as the main and modifying effects of functional polymorphisms in genes that metabolize polycyclic aromatic hydrocarbons (CYP1A1 Ile(462)Val, microsomal epoxide hydrolase His(139)Arg) and detoxify reactive derivatives (GSTM1 null deletion, GSTT1 null deletion, GSTP1 Ile(105)Val and Ala(114)Val) using a family-based case-control design (439 prostate cancer cases and 479 brother controls). 16614120

2006