Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.900 GeneticVariation GWASCAT Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 23544013

2013
dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.900 GeneticVariation GWASDB Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 23544013

2013
dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.900 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015
dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.900 GeneticVariation GWASCAT Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733

2013
dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.900 GeneticVariation GWASCAT SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor alpha (ESR1), showed strong and consistent association with breast cancer across all three stages. 19219042

2009
dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.900 GeneticVariation GWASCAT Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci. 27354352

2016
dbSNP: rs889312
rs889312
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.800 GeneticVariation GWASCAT A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. 24493630

2014
dbSNP: rs889312
rs889312
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.800 GeneticVariation GWASCAT Genome-wide association study identifies novel breast cancer susceptibility loci. 17529967

2007
dbSNP: rs889312
rs889312
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.800 GeneticVariation GWASCAT Genome-wide association study identifies five new breast cancer susceptibility loci. 20453838

2010
dbSNP: rs889312
rs889312
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.800 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015
dbSNP: rs889312
rs889312
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.800 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013
dbSNP: rs10941679
rs10941679
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.800 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015
dbSNP: rs10941679
rs10941679
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.800 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017
dbSNP: rs10941679
rs10941679
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.800 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013
dbSNP: rs4415084
rs4415084
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.790 GeneticVariation GWASCAT Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. 21263130

2011
dbSNP: rs10771399
rs10771399
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.750 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015
dbSNP: rs10771399
rs10771399
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.750 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013
dbSNP: rs10771399
rs10771399
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.750 GeneticVariation GWASCAT Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 27117709

2016
dbSNP: rs10771399
rs10771399
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.750 GeneticVariation GWASCAT Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733

2013
dbSNP: rs2823093
rs2823093
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.730 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015
dbSNP: rs2823093
rs2823093
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.730 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017
dbSNP: rs2823093
rs2823093
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.730 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013
dbSNP: rs16886165
rs16886165
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.730 GeneticVariation GWASCAT A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). 19330030

2009
dbSNP: rs2380205
rs2380205
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.720 GeneticVariation GWASCAT Genome-wide association study identifies five new breast cancer susceptibility loci. 20453838

2010
dbSNP: rs9693444
rs9693444
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.710 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015