rs4415084, None

N. diseases: 6
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
0.790 GeneticVariation BEFREE Application of our method to a breast cancer susceptibility region in 5p12 demonstrates that the risk allele rs4415084-T correlates with higher expression levels of the protein-coding gene mitochondrial ribosomal protein S30 (<i>MRPS30</i>) and lncRNA <i>RP11-53O19.1</i> We propose an intergenic SNP rs4321755, in linkage disequilibrium (LD) with the GWAS SNP rs4415084 (<i>r</i><sup>2</sup> = 0.988), to be the predicted functional SNP. 29351903 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.790 GeneticVariation BEFREE Application of our method to a breast cancer susceptibility region in 5p12 demonstrates that the risk allele rs4415084-T correlates with higher expression levels of the protein-coding gene mitochondrial ribosomal protein S30 (<i>MRPS30</i>) and lncRNA <i>RP11-53O19.1</i> We propose an intergenic SNP rs4321755, in linkage disequilibrium (LD) with the GWAS SNP rs4415084 (<i>r</i><sup>2</sup> = 0.988), to be the predicted functional SNP. 29351903 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.790 GeneticVariation BEFREE This study aims to determine the association between FGF10 (rs4415084 C>T), FGFR2 (rs2981582 C>T) and MAP3K1 (rs889312 A>C) gene polymorphisms and breast cancer, to analyse the discriminative ability of each SNP and to test the accuracy of the predictive breast cancer risk model which includes all SNPs. 29372690 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.790 GeneticVariation BEFREE This study aims to determine the association between FGF10 (rs4415084 C>T), FGFR2 (rs2981582 C>T) and MAP3K1 (rs889312 A>C) gene polymorphisms and breast cancer, to analyse the discriminative ability of each SNP and to test the accuracy of the predictive breast cancer risk model which includes all SNPs. 29372690 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.790 GeneticVariation BEFREE Significant associations with breast cancer were observed for rs13387042 and rs4415084 with OR (95% CI) per-allele 1.29 (1.00-1.66) and 0.83 (0.71-0.97), respectively. 27022606 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.790 GeneticVariation BEFREE Significant associations with breast cancer were observed for rs13387042 and rs4415084 with OR (95% CI) per-allele 1.29 (1.00-1.66) and 0.83 (0.71-0.97), respectively. 27022606 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.790 GeneticVariation BEFREE After that, a number of studies reported that the rs10941679, rs4415084, and rs981782 polymorphism in chromosome 5p12 has been implicated in BC risk. 23977236 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.790 GeneticVariation BEFREE Our findings demonstrated that rs10941679-G allele and rs4415084-T allele might be risk-conferring factors for the development of breast cancer, especially in Caucasians and East-Asians. 24039999 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.790 GeneticVariation BEFREE After that, a number of studies reported that the rs10941679, rs4415084, and rs981782 polymorphism in chromosome 5p12 has been implicated in BC risk. 23977236 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.790 GeneticVariation BEFREE Our findings demonstrated that rs10941679-G allele and rs4415084-T allele might be risk-conferring factors for the development of breast cancer, especially in Caucasians and East-Asians. 24039999 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.790 GeneticVariation BEFREE A genome-wide association study, conducted among women of European ancestry, has identified two single-nucleotide polymorphisms (SNPs) rs4415084 (T>C) and rs10941679 (A>G) at chromosome 5p12 were associated with risk of breast cancer, suggesting that genetic variants in this region may have a role in the development of breast cancer. 22832384 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.790 GeneticVariation BEFREE A genome-wide association study, conducted among women of European ancestry, has identified two single-nucleotide polymorphisms (SNPs) rs4415084 (T>C) and rs10941679 (A>G) at chromosome 5p12 were associated with risk of breast cancer, suggesting that genetic variants in this region may have a role in the development of breast cancer. 22832384 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.790 GeneticVariation GWASDB Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. 21263130 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.790 GeneticVariation GWASCAT Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. 21263130 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.790 GeneticVariation BEFREE In exploratory analyses, we found that the radiation-associated breast cancer risk varied significantly by linked markers in 5p12 (rs930395, rs10941679, rs2067980 and rs4415084) in the mitochondrial ribosomal protein S30 (MRPS30) gene (P(interaction) = 0.04). 20095854 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.790 GeneticVariation BEFREE We confirmed the reported association of rs4415084 SNP with overall risk of breast cancer (P = 0.06), and, as in the original study, observed a stronger association with estrogen receptor positive tumors (P = 0.03). 20140701 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.790 GeneticVariation BEFREE In exploratory analyses, we found that the radiation-associated breast cancer risk varied significantly by linked markers in 5p12 (rs930395, rs10941679, rs2067980 and rs4415084) in the mitochondrial ribosomal protein S30 (MRPS30) gene (P(interaction) = 0.04). 20095854 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.790 GeneticVariation BEFREE We confirmed the reported association of rs4415084 SNP with overall risk of breast cancer (P = 0.06), and, as in the original study, observed a stronger association with estrogen receptor positive tumors (P = 0.03). 20140701 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.790 GeneticVariation BEFREE We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 x 10(-12) for rs10941679). 18438407 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.790 GeneticVariation BEFREE We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 x 10(-12) for rs10941679). 18438407 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Furthermore, statistically significant multiplicative interactions were found between rs4415084 and age at diagnosis and between rs3803662 and tumor grade. 30285756 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE In subtype specific analysis, rs13387042 (per-allele adjusted OR = 1.36, 95% CI = 1.00-1.87) and rs4415084 (per-allele adjusted OR = 0.82, 95% CI = 0.66-1.00) showed slightly significant association with Luminal-A subtype; however, only rs13387042 was associated with ER-&PR-&HER2+ tumors (per-allele adjusted OR = 1.55, 95% CI = 1.00-2.40), and none of them were linked to Luminal-B and triple negative subtype. 27022606 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE We confirmed the reported association of rs4415084 SNP with overall risk of breast cancer (P = 0.06), and, as in the original study, observed a stronger association with estrogen receptor positive tumors (P = 0.03). 20140701 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 x 10(-12) for rs10941679). 18438407 2008
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE After grouping breast cancer subtypes, significantly reduced survival was associated with the variant alleles of rs9485372 for luminal A and rs4415084 for triple negative breast cancer. 30285756 2018