Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6504950
rs6504950
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs6504950
rs6504950
CUI: C0006142
Disease: Malignant neoplasm of breast
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

dbSNP: rs6504950
rs6504950
CUI: C0006142
Disease: Malignant neoplasm of breast
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

dbSNP: rs6504950
rs6504950
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs6504950
rs6504950
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs6504950
rs6504950
CUI: C0006142
Disease: Malignant neoplasm of breast
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

dbSNP: rs6504950
rs6504950
CUI: C0006142
Disease: Malignant neoplasm of breast
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

dbSNP: rs6504950
rs6504950
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs6504950
rs6504950
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs6504950
rs6504950
CUI: C0006142
Disease: Malignant neoplasm of breast
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

dbSNP: rs6504950
rs6504950
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs6504950
rs6504950
CUI: C0006142
Disease: Malignant neoplasm of breast
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

dbSNP: rs6504950
rs6504950
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs6504950
rs6504950
CUI: C0006142
Disease: Malignant neoplasm of breast
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

dbSNP: rs2787486
rs2787486
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.710 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

dbSNP: rs1156287
rs1156287
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 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

dbSNP: rs1156287
rs1156287
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 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

dbSNP: rs2787486
rs2787486
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 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

dbSNP: rs2787486
rs2787486
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 GeneticVariation BEFREE Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus. 27600471

2016

dbSNP: rs2787487
rs2787487
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE In the fine-mapping analysis, five SNPs showed a consistent association with breast cancer risk in both stages: rs10169372 (2q35), rs283720 (8q24.21), rs10515083 (17q23.2/COX11), rs16955329 (17q23.2/COX11), and rs2787487 (17q23.2/COX11). 20699374

2010

dbSNP: rs2787487
rs2787487
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE In the fine-mapping analysis, five SNPs showed a consistent association with breast cancer risk in both stages: rs10169372 (2q35), rs283720 (8q24.21), rs10515083 (17q23.2/COX11), rs16955329 (17q23.2/COX11), and rs2787487 (17q23.2/COX11). 20699374

2010

dbSNP: rs6504950
rs6504950
CUI: C0596263
Disease: Carcinogenesis
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

dbSNP: rs6504950
rs6504950
CUI: C0235653
Disease: Malignant neoplasm of female breast
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

dbSNP: rs6504950
rs6504950
CUI: C0238033
Disease: Carcinoma of Male Breast
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

dbSNP: rs6504950
rs6504950
CUI: C0242787
Disease: Malignant neoplasm of male breast
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