Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.900 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 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: rs17879961
rs17879961
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.900 GeneticVariation CLINVAR

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: 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 		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 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: rs3803662
rs3803662
CASC16
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: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.900 GeneticVariation GWASCAT Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. 23544012

2013
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.900 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.900 GeneticVariation GWASCAT Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733

2013
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.900 GeneticVariation GWASCAT Genome-wide association study of breast cancer in the Japanese population. 24143190

2013
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.900 GeneticVariation GWASCAT Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. 23001122

2012
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.900 GeneticVariation GWASDB Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. 23001122

2012
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.900 GeneticVariation GWASCAT A combined analysis of genome-wide association studies in breast cancer. 20872241

2011
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.900 GeneticVariation GWASCAT Genome-wide association study identifies five new breast cancer susceptibility loci. 20453838

2010
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.900 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: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.900 GeneticVariation GWASCAT Genome-wide association study identifies novel breast cancer susceptibility loci. 17529967

2007
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.900 GeneticVariation GWASCAT At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone. 17529974

2007
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.850 GeneticVariation GWASCAT Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 27117709

2016
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.850 GeneticVariation GWASCAT Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733

2013
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.850 GeneticVariation GWASCAT Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 23544013

2013
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.850 GeneticVariation GWASDB Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 23544013

2013