rs1011970, CDKN2B-AS1

N. diseases: 22
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation BEFREE Our study adds to the knowledge that several of the known BC susceptibility loci are risk factors for both BCIS and invasive BC, with the possible exception of rs1011970, a putatively functional SNP situated in the CDKN2BAS gene that may be a specific BCIS susceptibility locus. 26070784 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation BEFREE Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. 23593120 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation BEFREE To evaluate the relationships between genetic variants in these regions identified by GWAS and breast cancer risk in Chinese women, we genotyped four common SNPs at 9p21(rs1011970 and rs10757278), 10p15 (rs2380205), and 10q22 (rs1250009) in a two-stage case-control study with a total of 1792 breast cancer cases and 1,867 controls. 22198471 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation BEFREE Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). 22348646 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.730 GeneticVariation BEFREE To evaluate the relationships between genetic variants in these regions identified by GWAS and breast cancer risk in Chinese women, we genotyped four common SNPs at 9p21(rs1011970 and rs10757278), 10p15 (rs2380205), and 10q22 (rs1250009) in a two-stage case-control study with a total of 1792 breast cancer cases and 1,867 controls. 22198471 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.730 GeneticVariation BEFREE Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. 23593120 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.730 GeneticVariation BEFREE Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). 22348646 2012
Stage 0 Breast Cancer AJCC v6 and v7
0.010 GeneticVariation BEFREE Our study adds to the knowledge that several of the known BC susceptibility loci are risk factors for both BCIS and invasive BC, with the possible exception of rs1011970, a putatively functional SNP situated in the CDKN2BAS gene that may be a specific BCIS susceptibility locus. 26070784 2015
estrogen receptor-negative breast cancer
0.010 GeneticVariation BEFREE Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). 22348646 2012
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
0.010 GeneticVariation BEFREE With 81% power to detect genetic association we observed only nominal association of rs1011970 (uncorrected p = 0.048) with POAG and rs10120688 (uncorrected p = 0.048) in patients without a high intra-ocular pressure (IOP<21 mm of Hg) compared to controls. 24875940 2014
Stage 0 Breast Carcinoma
CUI: C0154084
Disease: Stage 0 Breast Carcinoma
0.010 GeneticVariation BEFREE Our study adds to the knowledge that several of the known BC susceptibility loci are risk factors for both BCIS and invasive BC, with the possible exception of rs1011970, a putatively functional SNP situated in the CDKN2BAS gene that may be a specific BCIS susceptibility locus. 26070784 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation GWASDB Genome-wide association study identifies five new breast cancer susceptibility loci. 20453838 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.730 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.730 GeneticVariation GWASCAT Genome-wide association study identifies five new breast cancer susceptibility loci. 20453838 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.730 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
0.730 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.730 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Malignant neoplasm of large intestine
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Endometrioid carcinoma ovary
CUI: C0346163
Disease: Endometrioid carcinoma ovary
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016