Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The homozygous minor allele (AA) of CYP19A1 rs4646 is significantly associated with improved clinical outcome of hormone therapy in premenopausal HR-positive early breast cancer patients, but with a worse impact on postmenopausal women. 26191232 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The present study indicates that CYP19 rs464</span>6 polymorphism is related to DFS in early breast cancer and that the prognosis index of the homozygous for the minor allele (AA) may depend on menopause status. 25793413 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE These findings suggest that the presence of the rs4646 variant may be a predictive factor of the benefit of AI treatment for BC. 26067721 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Genotyping for the CYP19 polymorphisms rs4646 (A/C), rs1065779 (A/C), CYP19 (TTTA)n (short allele/long (S/L) allele using the 7 TTTA repeat polymorphism as the cut-off), and rs1870050 (A/C) was performed on 296 patients with LN-negative, HR-positive breast cancers. 24324964 2013
Malignant neoplasm of breast
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
Malignant neoplasm of breast
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
Malignant neoplasm of breast
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
Malignant neoplasm of breast
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
Malignant neoplasm of breast
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
Malignant neoplasm of breast
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.090 GeneticVariation BEFREE The present study indicates that CYP19 rs464</span>6 polymorphism is related to DFS in early breast cancer and that the prognosis index of the homozygous for the minor allele (AA) may depend on menopause status. 25793413 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.090 GeneticVariation BEFREE These findings suggest that the presence of the rs4646 variant may be a predictive factor of the benefit of AI treatment for BC. 26067721 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.090 GeneticVariation BEFREE The homozygous minor allele (AA) of CYP19A1 rs4646 is significantly associated with improved clinical outcome of hormone therapy in premenopausal HR-positive early breast cancer patients, but with a worse impact on postmenopausal women. 26191232 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.090 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.090 GeneticVariation BEFREE Testing for the rs4646 polymorphism could be a useful tool in order to orientate the treatment in elderly BC patients. 20144226 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.090 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.090 GeneticVariation BEFREE Testing for the CYP19 rs4646 SNP as a predictive tool for breast cancer patients on antiaromatase therapy deserves prospective evaluation. 18245543 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.090 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.090 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
IGA Glomerulonephritis
CUI: C0017661
Disease: IGA Glomerulonephritis
0.010 GeneticVariation BEFREE Our results suggested that the IL-16 rs859, CYP19A1 rs4646, and BACH1 rs372883 polymorphisms have potential roles in the genetic susceptibility to IgAN in Chinese Han population. 31067541 2019
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 GeneticVariation BEFREE The results of this study indicate that the rs2236722 and rs4646 of the CYP19A1 gene are associated with CAD and circulating sex hormone levels in the Xinjiang population of China. 29228596 2017
Prognostic Stage III Breast Cancer AJCC v8
0.010 GeneticVariation BEFREE Genotyping for CYP19 rs4646 variants was performed on 406 Chinese women with stage I-II and operable stage III breast cancer. 25793413 2015
Anatomic Stage III Breast Cancer AJCC v8
0.010 GeneticVariation BEFREE Genotyping for CYP19 rs4646 variants was performed on 406 Chinese women with stage I-II and operable stage III breast cancer. 25793413 2015
Breast cancer stage III
CUI: C4721421
Disease: Breast cancer stage III
0.010 GeneticVariation BEFREE Genotyping for CYP19 rs4646 variants was performed on 406 Chinese women with stage I-II and operable stage III breast cancer. 25793413 2015
Stage III Breast Cancer AJCC v6
CUI: C0278487
Disease: Stage III Breast Cancer AJCC v6
0.010 GeneticVariation BEFREE Genotyping for CYP19 rs4646 variants was performed on 406 Chinese women with stage I-II and operable stage III breast cancer. 25793413 2015