Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2236722
rs2236722
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Aromatase and breast cancer: W39R, an inactive protein. 11916629 2002
dbSNP: rs700519
rs700519
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.070 GeneticVariation BEFREE The results suggest that the CYP19 Arg(264)Cys polymorphism modifies breast cancer</span> risk (OR=1.5, 95% CI=1.1-2.2), especially in association with alcohol consumption (P for interaction=0.04), whereas the CYP1B1 Leu(432)Val polymorphism appears to play no role here. 12618873 2003
dbSNP: rs2236722
rs2236722
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE The CYP19 gene codon 39 Trp/Arg polymorphism increases breast cancer risk in subsets of premenopausal Japanese. 15298966 2004
dbSNP: rs700519
rs700519
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.070 GeneticVariation BEFREE The nonsynonymous SNP, rs700519 (Arg264Cys), located in haplotype block 4, was also associated with breast cancer survival. 17119036 2006
dbSNP: rs10046
rs10046
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In a case-control study nested within a breast self-examination trial conducted in China, we examined whether CYP19A1 polymorphisms (rs1870049, rs1004982, rs28566535, rs936306, rs11636639, rs767199, rs4775936, rs11575899, rs10046, and rs4646) were associated with risk of breast cancer and fibrocystic breast conditions. 19064562 2008
dbSNP: rs10046
rs10046
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, and rs10046 genotypes are associated with an altered DFS. 18049890 2008
dbSNP: rs4646
rs4646
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, and rs10046 genotypes are associated with an altered DFS. 18049890 2008
dbSNP: rs4646
rs4646
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Testing for the CYP19 rs4646 SNP as a predictive tool for breast cancer patients on antiaromatase therapy deserves prospective evaluation. 18245543 2008
dbSNP: rs4646
rs4646
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In a case-control study nested within a breast self-examination trial conducted in China, we examined whether CYP19A1 polymorphisms (rs1870049, rs1004982, rs28566535, rs936306, rs11636639, rs767199, rs4775936, rs11575899, rs10046, and rs4646) were associated with risk of breast cancer and fibrocystic breast conditions. 19064562 2008
dbSNP: rs4775936
rs4775936
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE The risk of breast cancer with (but not without) proliferative fibrocystic conditions was increased among women homozygous for the minor allele of rs1004982 (C), rs28566535 (C), rs936306 (T), and rs4775936 (C) relative to those homozygous for the major allele [age-adjusted odds ratios (95% confidence intervals), 2.19 (1.24-3.85), 2.20 (1.27-3.82), 1.94 (1.13-3.30), and 1.95 (1.07-3.58), respectively]. 19064562 2008
dbSNP: rs1008805
rs1008805
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Our results suggest that premenopausal women carrying the G allele at CYP19 rs1008805 have increased risk of breast cancer. 17975727 2008
dbSNP: rs1004982
rs1004982
Entrez Id: 1588;112268146
Gene Symbol: CYP19A1;LOC112268146
CYP19A1;LOC112268146
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The risk of breast cancer with (but not without) proliferative fibrocystic conditions was increased among women homozygous for the minor allele of rs1004982 (C), rs28566535 (C), rs936306 (T), and rs4775936 (C) relative to those homozygous for the major allele [age-adjusted odds ratios (95% confidence intervals), 2.19 (1.24-3.85), 2.20 (1.27-3.82), 1.94 (1.13-3.30), and 1.95 (1.07-3.58), respectively]. 19064562 2008
dbSNP: rs28566535
rs28566535
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The risk of breast cancer with (but not without) proliferative fibrocystic conditions was increased among women homozygous for the minor allele of rs1004982 (C), rs28566535 (C), rs936306 (T), and rs4775936 (C) relative to those homozygous for the major allele [age-adjusted odds ratios (95% confidence intervals), 2.19 (1.24-3.85), 2.20 (1.27-3.82), 1.94 (1.13-3.30), and 1.95 (1.07-3.58), respectively]. 19064562 2008
dbSNP: rs730154
rs730154
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE There was no significant association between rs730154 and breast cancer, regardless of menopausal status. 17975727 2008
dbSNP: rs936306
rs936306
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The risk of breast cancer with (but not without) proliferative fibrocystic conditions was increased among women homozygous for the minor allele of rs1004982 (C), rs28566535 (C), rs936306 (T), and rs4775936 (C) relative to those homozygous for the major allele [age-adjusted odds ratios (95% confidence intervals), 2.19 (1.24-3.85), 2.20 (1.27-3.82), 1.94 (1.13-3.30), and 1.95 (1.07-3.58), respectively]. 19064562 2008
dbSNP: rs10046
rs10046
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE A common haplotype composed of the Val(80) G allele and three haplotype-tagging single nucleotide polymorphisms (rs727479, rs10046, and rs4646) in the CYP19 coding region showed a trend to association with breast cancer risk in BRCA1 carriers ages <50 years. 19366906 2009
dbSNP: rs10046
rs10046
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE This study provides evidence that polymorphisms CYP17 rs743572, CYP19 rs10046 and ER-alpha rs3798577 are associated with breast cancer risk among Chinese women. 18629629 2009
dbSNP: rs4646
rs4646
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE A common haplotype composed of the Val(80) G allele and three haplotype-tagging single nucleotide polymorphisms (rs727479, rs10046, and rs4646) in the CYP19 coding region showed a trend to association with breast cancer risk in BRCA1 carriers ages <50 years. 19366906 2009
dbSNP: rs2236722
rs2236722
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in south Indian women. 19469636 2009
dbSNP: rs1413421847
rs1413421847
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in south Indian women. 19469636 2009
dbSNP: rs4646
rs4646
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Testing for the rs4646 polymorphism could be a useful tool in order to orientate the treatment in elderly BC patients. 20144226 2010
dbSNP: rs700519
rs700519
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.070 GeneticVariation BEFREE A total of 22 studies with 10,592 cases and 11,720 controls were identified, and the results showed that R264C polymorphism was not associated with breast cancer risk in overall (T vs. C: OR = 1.061, 95% CI = 0.929-1.212) or race-based populations (T vs. C for Asian: OR = 1.169, 95% CI = 1.002-1.363; for Caucasian: OR = 0.787, 95% CI = 0.597-1.037); meanwhile, for Asian individuals, 3-bpDel/Ins polymorphism showed a significantly association with breast cancer susceptibility (for allele Del vs. allele Ins: OR = 1.278, 95% CI = 1.066-1.532) while the carriers of allele (TTTA)(12) can significantly decrease breast cancer risk (OR = 0.752, 95% CI = 0.603-0.939). 20052540 2010
dbSNP: rs2236722
rs2236722
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susceptibility. 20133979 2010
dbSNP: rs4646
rs4646
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The common allele of rs4646, which has been associated with increased breast cancer risk, was associated with low-histological grade and small tumour size (P = 0.001 and 0.015; 1-sided, respectively). 20960227 2011
dbSNP: rs700519
rs700519
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.070 GeneticVariation BEFREE A DNA bank of patients with gynecologic oncology, patients with breast cancer (n = 335), and healthy women (n = 530) was created, and the following single-nucleotide polymorphisms were examined: CYP1A1 M1 polymorphism, that is, T264-C transition in the 30-noncoding region; CYP1A2*1F polymorphism, that is, C734-A transversion in the CYP1A2 gene; C-T transition (Arg264Cys) in exon 7 of CYP19; and SULT1A1*2 polymorphism, that is, G638-A transition (Arg213His) in the SULT1A1 gene. 21977969 2012