rs4784227, CASC16

N. diseases: 8
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
0.770 GeneticVariation BEFREE Results showed that in northwest Chinese Han population, SNP rs17530068 (LOC105377871) increases the risk of breast cancer and SNP rs4784227 (CASC16) promotes lymph node metastasis in breast cancer patients. 31655495 2020
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE Results showed that in northwest Chinese Han population, SNP rs17530068 (LOC105377871) increases the risk of breast cancer and SNP rs4784227 (CASC16) promotes lymph node metastasis in breast cancer patients. 31655495 2020
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation GWASCAT Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 27117709 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE ABC successfully identifies previously characterized functional SNVs, such as the rs4784227 breast cancer risk associated SNP that modulates the affinity of FOXA1 for the chromatin. 25995231 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE Five of the 17 SNPs were significantly associated (P ≤ 0.05) with overall breast cancer in the same direction as previously reported: rs13387042 (2q35/TNP1), rs4973768 (3p24/SLC4A7), rs2046210 (6q25/ESR1), rs1219648 (10q26/FGFR2), and rs4784227 (16q12/TOX3). 24510657 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE ABC successfully identifies previously characterized functional SNVs, such as the rs4784227 breast cancer risk associated SNP that modulates the affinity of FOXA1 for the chromatin. 25995231 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE Five of the 17 SNPs were significantly associated (P ≤ 0.05) with overall breast cancer in the same direction as previously reported: rs13387042 (2q35/TNP1), rs4973768 (3p24/SLC4A7), rs2046210 (6q25/ESR1), rs1219648 (10q26/FGFR2), and rs4784227 (16q12/TOX3). 24510657 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE Significant associations with breast cancer risk were observed for rs4784227 and rs8051542 with odds ratios (OR) of 1.31 ((95% confidence intervals (CI), 1.10-1.57)) and 1.26 (95% CI, 1.02-1.56), respectively, per T allele. 24481062 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE The results indicated that both polymorphisms were significantly associated with the risk of breast cancer, with per allele OR = 1.35, (95%CI = 1.17-1.57) for rs2046210 and per allele OR = 1.24 (95%CI = 1.06-1.45) for rs4784227. 25531440 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation GWASCAT Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. 25327703 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE The results indicated that both polymorphisms were significantly associated with the risk of breast cancer, with per allele OR = 1.35, (95%CI = 1.17-1.57) for rs2046210 and per allele OR = 1.24 (95%CI = 1.06-1.45) for rs4784227. 25531440 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE Significant associations with breast cancer risk were observed for rs4784227 and rs8051542 with odds ratios (OR) of 1.31 ((95% confidence intervals (CI), 1.10-1.57)) and 1.26 (95% CI, 1.02-1.56), respectively, per T allele. 24481062 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation GWASDB Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. 23555315 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). 22452962 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). 22452962 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE These results provide strong evidence implicating rs4784227 as a functional causal variant for breast cancer in the locus 16q12.1 and demonstrate the utility of conducting genetic association studies in populations with different genetic architectures. 20585626 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE These results provide strong evidence implicating rs4784227 as a functional causal variant for breast cancer in the locus 16q12.1 and demonstrate the utility of conducting genetic association studies in populations with different genetic architectures. 20585626 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation GWASDB SNP rs4784227 is located at 16q12.1, a region identified previously for breast cancer risk among Europeans. 20585626 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation GWASCAT SNP rs4784227 is located at 16q12.1, a region identified previously for breast cancer risk among Europeans. 20585626 2010
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.700 GeneticVariation GWASCAT A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. 28892059 2017
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE Results showed that in northwest Chinese Han population, SNP rs17530068 (LOC105377871) increases the risk of breast cancer and SNP rs4784227 (CASC16) promotes lymph node metastasis in breast cancer patients. 31655495 2020
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.010 GeneticVariation BEFREE Methylation QTL (mQTL) analyses showed a weak or no correlation of rs3803662 or rs4784227 with TOX3 promoter methylation in breast tumors, indicating an independent relationship between the genetic and epigenetic events. 27806084 2016
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE When stratified by breast cancer subtype, all five SNPs were associated (P < 0.05) with ER+ cancer, three with ER- cancer (rs13387042, rs1219648, and rs4784227), and one with TNBC (rs1219648). 24510657 2015