Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8100241
rs8100241
Entrez Id: 83878;126549
Gene Symbol: USHBP1;ANKLE1
USHBP1;ANKLE1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE The variant rs8100241 located in ANKLE1 was significantly associated with CRC risk (odds ratio = 0.88, 95% confidence interval = 0.84-0.92, p = 4.85 × 10<sup>-8</sup> ) in 8,403 cases and 10,086 controls. 31509622 2019
dbSNP: rs2278256
rs2278256
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms 		0.010 GeneticVariation BEFREE In addition, the haplotypes containing two polymorphisms rs7250266 and rs2278256 are associated with a lower chance of TNBC development specifically. 26848770 2016
dbSNP: rs2278256
rs2278256
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma 		0.010 GeneticVariation BEFREE In addition, the haplotypes containing two polymorphisms rs7250266 and rs2278256 are associated with a lower chance of TNBC development specifically. 26848770 2016
dbSNP: rs7250266
rs7250266
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma 		0.010 GeneticVariation BEFREE We found that rs7250266 in the promoter region of NBA1 confers a decreased risk to TNBC development, but not to non-TNBC</span> susceptibility. 26848770 2016
dbSNP: rs7250266
rs7250266
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms 		0.010 GeneticVariation BEFREE We found that rs7250266 in the promoter region of NBA1 confers a decreased risk to TNBC development, but not to non-TNBC</span> susceptibility. 26848770 2016
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C4733093
Disease:
progesterone receptor-negative breast cancer 		0.010 GeneticVariation BEFREE Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1.59], P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively. 23136140 2013
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C4733094
Disease:
progesterone receptor-positive breast cancer 		0.010 GeneticVariation BEFREE Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1.59], P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively. 23136140 2013
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C4733095
Disease:
HER2-negative breast cancer 		0.010 GeneticVariation BEFREE Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10(-5)] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10(-7)). 22331459 2012
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C2938924
Disease:
Oestrogen receptor positive breast cancer 		0.010 GeneticVariation BEFREE Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10(-5)] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10(-7)). 22331459 2012
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C4733092
Disease:
estrogen receptor-negative breast cancer 		0.010 GeneticVariation BEFREE However, rs8170 was no longer associated with ER-negative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89-1.07; P = 0.62). 22331459 2012
dbSNP: rs8100241
rs8100241
Entrez Id: 83878;126549
Gene Symbol: USHBP1;ANKLE1
USHBP1;ANKLE1
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms 		0.010 GeneticVariation BEFREE We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. 21844186 2011
dbSNP: rs8100241
rs8100241
Entrez Id: 83878;126549
Gene Symbol: USHBP1;ANKLE1
USHBP1;ANKLE1
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma 		0.010 GeneticVariation BEFREE We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. 21844186 2011
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial 		0.020 GeneticVariation BEFREE Common variant rs8170 and rare variants in ATG2B may be associated with EOC overall survival, although further study is needed. 26747452 2016
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma 		0.020 GeneticVariation BEFREE In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P = 3.31 × 10(-13)]. 22331459 2012
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms 		0.020 GeneticVariation BEFREE In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P = 3.31 × 10(-13)]. 22331459 2012
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms 		0.020 GeneticVariation BEFREE We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. 21844186 2011
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma 		0.020 GeneticVariation BEFREE We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. 21844186 2011
dbSNP: rs8170
rs8170
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial 		0.020 GeneticVariation BEFREE Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development. 20852633 2010
dbSNP: rs4808075
rs4808075
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C1335177
Disease:
Ovarian Serous Adenocarcinoma 		C 0.700 GeneticVariation GWASCAT Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 28346442 2017
dbSNP: rs4808075
rs4808075
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C0919267
Disease:
ovarian neoplasm 		C 0.700 GeneticVariation GWASCAT Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 28346442 2017
dbSNP: rs4808075
rs4808075
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C0600139
Disease:
Prostate carcinoma 		C 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs4808075
rs4808075
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		C 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs4808075
rs4808075
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C1335177
Disease:
Ovarian Serous Adenocarcinoma 		C 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs4808075
rs4808075
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C0346163
Disease:
Endometrioid carcinoma ovary 		C 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs4808075
rs4808075
Entrez Id: 29086;83878
Gene Symbol: BABAM1;USHBP1
BABAM1;USHBP1
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		C 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016