Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780174
rs587780174
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs555607708
rs555607708
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs41293497
rs41293497
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.700 CausalMutation CLINVAR

dbSNP: rs397507990
rs397507990
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		GA 0.700 GeneticVariation CLINVAR

dbSNP: rs376603775
rs376603775
ATM
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs180177133
rs180177133
PALB2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555616176
rs1555616176
BRIP1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555283031
rs1555283031
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137853007
rs137853007
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918279
rs121918279
EXT2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913121
rs121913121
FH
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs121909231
rs121909231
PTEN
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs11852999
rs11852999
PRC1 ; PRC1-AS1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs10520699
rs10520699
PRC1 ; PRC1-AS1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.700 GeneticVariation CLINVAR

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 		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 		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 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: 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 		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 		T 0.900 GeneticVariation GWASCAT Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733

2013