COLCA2, colorectal cancer associated 2, 120376

N. diseases: 12; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0595989
Disease:
Carcinoma of larynx
0.010 GeneticVariation BEFREE Univariate cox regression analysis indicated that four SNPs were associated (p < 0.05) with LC OS in the codominant genetic model compared to patients with the homozygous wild-type genotype: rs10088262 G/A (HR = 1.57), rs1665650 A/G (HR = 0.65); rs3802842 C/C (HR = 2.18), and rs59336 T/A and T/T (HR = 0.61 and 2.61, respectively). 28052013 2017
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE We identified two risk alleles that were significant cis-eQTLs for FADS2 (rs1535) and COLCA1 and 2 (rs3802842) genes in the normal transverse colon tissue and two risk alleles that were significant cis-eQTLs for the CABLES2 (rs2427308) and LIPG (rs7229639) genes in the normal sigmoid colon tissue, but not tumor tissue. 28506205 2017
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Common genetic variant rs3802842 in 11q23 contributes to colorectal cancer risk in Chinese population. 29069782 2017
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0014859
Disease:
Esophageal Neoplasms
0.010 GeneticVariation BEFREE In the genetic model analysis, the C/C genotype of rs3802842 was associated with a reduced risk of esophageal cancer in the codominant model (OR = 0.52, 95%CI: 0.31-0.88; P = 0.033) and recessive model (OR = 0.55, 95%CI: 0.34-0.87; P = 0.010). 26078566 2015
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0001430
Disease:
Adenoma
0.010 GeneticVariation BEFREE The CRC SNPs accounted for 4.3% of the variation in multiple adenoma risk, with three SNPs (rs6983267, rs10795668, rs3802842) explaining 3.0% of the variation. 24801760 2015
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0546837
Disease:
Malignant neoplasm of esophagus
0.010 GeneticVariation BEFREE In the genetic model analysis, the C/C genotype of rs3802842 was associated with a reduced risk of esophageal cancer in the codominant model (OR = 0.52, 95%CI: 0.31-0.88; P = 0.033) and recessive model (OR = 0.55, 95%CI: 0.34-0.87; P = 0.010). 26078566 2015
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0152018
Disease:
Esophageal carcinoma
0.010 GeneticVariation BEFREE In the genetic model analysis, the C/C genotype of rs3802842 was associated with a reduced risk of esophageal cancer in the codominant model (OR = 0.52, 95%CI: 0.31-0.88; P = 0.033) and recessive model (OR = 0.55, 95%CI: 0.34-0.87; P = 0.010). 26078566 2015
dbSNP: rs10891246
rs10891246
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. 24256810 2014
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0034885
Disease:
Rectal Neoplasms
0.010 GeneticVariation BEFREE Carrying the C allele at rs3802842 appeared to be associated with a lower risk for rectal tumors in our dataset. 22457859 2012
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0034882
Disease:
Rectal Diseases
0.010 GeneticVariation BEFREE Several loci showed statistically significant associations with specific phenotypes notably rs6691170 and rs3802842 associated with microsatellite stable rectal disease; rs4779584, rs961253 and rs4813802 associated with microsatellite stable colonic disease and rs4444235 and rs4925386 with microsatellite instability colonic disease. 22045029 2012
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0009373
Disease:
Colonic Diseases
0.010 GeneticVariation BEFREE Several loci showed statistically significant associations with specific phenotypes notably rs6691170 and rs3802842 associated with microsatellite stable rectal disease; rs4779584, rs961253 and rs4813802 associated with microsatellite stable colonic disease and rs4444235 and rs4925386 with microsatellite instability colonic disease. 22045029 2012
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0237123
Disease:
Alcohol or Other Drugs use
0.010 GeneticVariation BEFREE We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). 22367214 2012
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0699790
Disease:
Colon Carcinoma
0.020 GeneticVariation BEFREE A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3). 23434150 2013
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0007113
Disease:
Rectal Carcinoma
0.020 GeneticVariation BEFREE At 11q23.1, rs3802842 was significantly associated with rectal cancer risk only among African Americans (odds ratio, 1.34; P = .01); this observation was made in previous studies. 20659471 2010
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0007113
Disease:
Rectal Carcinoma
0.020 GeneticVariation BEFREE Furthermore, we found that rs10795668 was associated with increased risk only in rectal cancer but not colon cancer, and rs3802842 was also significantly associated with advanced stages of CRC. 20530476 2010
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C0699790
Disease:
Colon Carcinoma
0.020 GeneticVariation BEFREE Risk was greater for rectal than for colon cancer for rs3802842 (P < 0.008) and rs4939827 (P < 0.009). 18372901 2008
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C4552100
Disease:
Lynch Syndrome
0.030 GeneticVariation BEFREE We identified associations at two of the six CRC susceptibility loci in MLH1 mutation carriers from the combined LS cohort: 11q23.1 (rs3802842, HR = 2.68, p ≤ 0.0001) increasing risk of CRC, and rs3802842 in a pair-wise combination with 8q23.3 (rs16892766) affecting age of diagnosis of CRC (log-rank test; p ≤ 0.0001). 22987364 2013
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
0.030 GeneticVariation BEFREE We identified associations at two of the six CRC susceptibility loci in MLH1 mutation carriers from the combined LS cohort: 11q23.1 (rs3802842, HR = 2.68, p ≤ 0.0001) increasing risk of CRC, and rs3802842 in a pair-wise combination with 8q23.3 (rs16892766) affecting age of diagnosis of CRC (log-rank test; p ≤ 0.0001). 22987364 2013
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C4552100
Disease:
Lynch Syndrome
0.030 GeneticVariation BEFREE Regarding early-onset cases, 14q22 (rs4444235), 11q23 (rs3802842) and 20p12 (rs961253) variants were more associated with family history of CRC or tumors of the Lynch syndrome spectrum excluding CRC. 22235025 2012
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
0.030 GeneticVariation BEFREE Regarding early-onset cases, 14q22 (rs4444235), 11q23 (rs3802842) and 20p12 (rs961253) variants were more associated with family history of CRC or tumors of the Lynch syndrome spectrum excluding CRC. 22235025 2012
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C4552100
Disease:
Lynch Syndrome
0.030 GeneticVariation BEFREE Recently, six colorectal cancer (CRC) susceptibility loci have been identified, and two single-nucleotide polymorphisms (SNPs)--rs16892766 (8q23.3) and rs3802842 (11q23.1)--from two of these regions have been found to be significantly associated with an increased CRC risk in patients with Lynch syndrome. 21097774 2011
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
0.030 GeneticVariation BEFREE Recently, six colorectal cancer (CRC) susceptibility loci have been identified, and two single-nucleotide polymorphisms (SNPs)--rs16892766 (8q23.3) and rs3802842 (11q23.1)--from two of these regions have been found to be significantly associated with an increased CRC risk in patients with Lynch syndrome. 21097774 2011
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
C 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
C 0.700 GeneticVariation GWASCAT Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer. 30529582 2019
dbSNP: rs3802842
rs3802842
Entrez Id: 120376;399948
Gene Symbol: COLCA2;COLCA1
COLCA2;COLCA1
CUI: C1319315
Disease:
Adenocarcinoma of large intestine
C 0.700 GeneticVariation GWASCAT Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer. 30529582 2019