Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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 CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susceptibility. 20133979 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 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in south Indian women. 19469636 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 The CYP19 gene codon 39 Trp/Arg polymorphism increases breast cancer risk in subsets of premenopausal Japanese. 15298966 2004
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: rs4775936
rs4775936
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE We discuss the implications of this association for links between D<sub>r-l</sub> and rs4775936 and prenatal sex steroids and for susceptibility to breast cancer. 30986648 2019
dbSNP: rs700518
rs700518
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE A reduced risk of a breast cancer event for tamoxifen-treated patients with rs700518 variants was observed (BCFI CC/TC vs. TT: HR 0.53, 95 % CI 0.34-0.82, interaction P = 0.08), but not observed for letrozole-treated patients. 25935582 2015
dbSNP: rs700518
rs700518
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Genetic polymorphism at Val80 (rs700518) of the CYP19A1 gene is associated with body composition changes in women on aromatase inhibitors for ER (+) breast cancer. 26049585 2015
dbSNP: rs700518
rs700518
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Two SNPs remained significantly associated with increased breast cancer risk in women of moderate to high NA ancestry (≥29 %): rs700518, ORGG 1.36, 95 % CI 1.11-1.67 and rs11856927, ORGG 1.35, 95 % CI 1.05-1.72. 25088806 2014
dbSNP: rs4775936
rs4775936
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. 23935996 2013
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 In conclusion, the homozygous minor allele (GG) of <i>CYP19A1</i> rs1008805 was identified to be significantly associated with an inferior clinical outcome of hormone therapy in postmenopausal hormone receptor-positive patients with early breast cancer. 29113261 2017
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: rs7176005
rs7176005
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The CYP19A1 SNP rs7176005 (p < 0.0045) and the CYP1A2 SNP rs762551 (p = 0.004) were significantly associated with BC risk. 31477036 2019
dbSNP: rs774053181
rs774053181
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE In summary, the BRCA1 Cys39Gly</span> and CYP17A1 -34T>C genetic variations were associated with breast cancer risk. 29510000 2018
dbSNP: rs3751591
rs3751591
Entrez Id: 1588;102465855;102466250
Gene Symbol: CYP19A1;MIR7973-2;MIR7973-1
CYP19A1;MIR7973-2;MIR7973-1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE CYP19A1/rs3751591 was both associated with SHBG levels (P = 0.03) and with risk of BC (Incidence Rate Ratio = 2.12; 95 % Confidence Interval: 1.02-4.43) such that homozygous variant allele carriers had increased levels of serum SHBG and were at increased risk of BC. 27102200 2016
dbSNP: rs11856927
rs11856927
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Two SNPs remained significantly associated with increased breast cancer risk in women of moderate to high NA ancestry (≥29 %): rs700518, ORGG 1.36, 95 % CI 1.11-1.67 and rs11856927, ORGG 1.35, 95 % CI 1.05-1.72. 25088806 2014
dbSNP: rs1065779
rs1065779
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 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
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: 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