rs6504950, STXBP4

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE BC patients (n = 1687) randomly sampled in an adjuvant, randomized phase III trial (SUCCESS A study) were genotyped for nine BC risk SNPs: rs17468277 <i>(CASP8)</i> , rs2981582 <i>(FGFR2)</i> , rs13281615(8q24), rs3817198 <i>(LSP1)</i> , rs889312 <i>(MAP3K1)</i> , rs3803662 <i>(TOX3)</i> , rs13387042(2q35), rs4973768 <i>(SLC4A7)</i> , rs6504950 <i>(COX11)</i> . 28757652 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE BC patients (n = 1687) randomly sampled in an adjuvant, randomized phase III trial (SUCCESS A study) were genotyped for nine BC risk SNPs: rs17468277 <i>(CASP8)</i> , rs2981582 <i>(FGFR2)</i> , rs13281615(8q24), rs3817198 <i>(LSP1)</i> , rs889312 <i>(MAP3K1)</i> , rs3803662 <i>(TOX3)</i> , rs13387042(2q35), rs4973768 <i>(SLC4A7)</i> , rs6504950 <i>(COX11)</i> . 28757652 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). 27600471 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). 27600471 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. 23893088 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. 23893088 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE The study results suggest that previously identified breast cancer risk susceptibility loci, rs12443621 (16q12) and rs6504950 (17q23), may influence breast cancer prognosis or comorbid conditions associated with overall survival. 23635555 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE The study results suggest that previously identified breast cancer risk susceptibility loci, rs12443621 (16q12) and rs6504950 (17q23), may influence breast cancer prognosis or comorbid conditions associated with overall survival. 23635555 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE We observed that STXBP4/COX11 rs6504950 polymorphism was significantly correlated with breast cancer risk when all studies were pooled into the meta-analysis (the allele contrast model: OR = 0.93, 95% CI = 0.87-0.99; the heterozygote codominant model: OR = 0.87, 95% CI = 0.83-0.90; the dominant model OR = 0.92, 95% CI = 0.88-0.96). 22863968 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE We observed that STXBP4/COX11 rs6504950 polymorphism was significantly correlated with breast cancer risk when all studies were pooled into the meta-analysis (the allele contrast model: OR = 0.93, 95% CI = 0.87-0.99; the heterozygote codominant model: OR = 0.87, 95% CI = 0.83-0.90; the dominant model OR = 0.92, 95% CI = 0.88-0.96). 22863968 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. 22532573 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. 22532573 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. 21118973 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. 21118973 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation GWASDB Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. 19330027 2009
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation GWASCAT Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. 19330027 2009
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.010 GeneticVariation BEFREE This meta-analysis indicated that the rs6504950 AA/AG genotypes are associated with a significantly decreased risk of breast carcinogenesis. 22863968 2012
Malignant neoplasm of female breast
CUI: C0235653
Disease: Malignant neoplasm of female breast
0.010 GeneticVariation BEFREE Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs--rs13387042 (2q35), rs3803662 (TOX3), and rs6504950 (COX11)--showed significant differences in ORs (p<0.05) between sexes. 21949660 2011
Female Breast Carcinoma
CUI: C0007104
Disease: Female Breast Carcinoma
0.010 GeneticVariation BEFREE Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs--rs13387042 (2q35), rs3803662 (TOX3), and rs6504950 (COX11)--showed significant differences in ORs (p<0.05) between sexes. 21949660 2011
Carcinoma of Male Breast
CUI: C0238033
Disease: Carcinoma of Male Breast
0.010 GeneticVariation BEFREE Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs--rs13387042 (2q35), rs3803662 (TOX3), and rs6504950 (COX11)--showed significant differences in ORs (p<0.05) between sexes. 21949660 2011
Malignant neoplasm of male breast
CUI: C0242787
Disease: Malignant neoplasm of male breast
0.010 GeneticVariation BEFREE Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs--rs13387042 (2q35), rs3803662 (TOX3), and rs6504950 (COX11)--showed significant differences in ORs (p<0.05) between sexes. 21949660 2011