rs965513, PTCSC2

N. diseases: 15
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation BEFREE The A allele of rs965513 polymorphism was shown to be highly associated with risk of thyr</span>oid cancer, with odds ratios of 1.58 (95% CI 1.32-1.90) in all populations, 1.65 (95% CI 1.31-2.07)) in Caucasian populations and 1.49 in Asian populations. 27191655 2016
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation GWASCAT Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations. 25855579 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation BEFREE These results explain the mechanism by which the risk allele of rs965513 predisposes to thyroid cancer. 25918370 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation BEFREE For rs965513, individuals carrying the risk A allele, compared to individuals with the G allele, had 31 % higher risk of thyroid cancer (A vs. G: OR 1.31, 95 % CI 1.17-1.46). 26206751 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation GWASCAT Genome-wide association study on differentiated thyroid cancer. 23894154 2013
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation GWASDB Genome-wide association study on differentiated thyroid cancer. 23894154 2013
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation BEFREE Five single nucleotide polymorphisms (SNPs) were previously reported to be associated with thyroid cancer in European populations in two genome-wide association studies (GWAS): rs965513 (9q22.33), rs944289 (14q13.3), rs116909374 (14q13.3), rs966423 (2q35) and rs2439302 (8p12). 23847140 2013
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation BEFREE The four validated TC SNPs accounted for a relatively large proportion (∼11%) of the sibling relative risk of TC, principally owing to the large effect size of rs965513 (OR 1.74). 22282540 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation BEFREE Of those, rs965513 has previously been shown to associate with thyroid cancer. 22267200 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation GWASDB Of those, rs965513 has previously been shown to associate with thyroid cancer. 22267200 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation GWASDB The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl. 20350937 2010
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation GWASCAT The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl. 20350937 2010
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation GWASCAT Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. 19198613 2009
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation GWASDB Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. 19198613 2009
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.700 GeneticVariation GWASDB Novel associations for hypothyroidism include known autoimmune risk loci. 22493691 2012
Polysomnography
CUI: C0162701
Disease: Polysomnography
0.700 GeneticVariation GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.700 GeneticVariation GWASDB Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. 21981779 2011
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
0.700 GeneticVariation GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE The functional variants rs965513 and rs1867277 independently contribute to genetic predisposition to PTC, while a contributing role of the FOXE1 poly-Ala polymorphism could not be confirmed. 27824288 2017
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE There were significant associations of all SNPs with PTC (rs965513 odds ratio [OR] = 1.72, p = 8 × 10-7; rs1867277 OR = 1.59, p = 1 × 10-6; rs1443434 OR = 1.53, p = 1 × 10-5; rs944289 OR = 1.52, p = 4 × 10-5). 28660995 2017
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE We propose that the interaction between the lncRNA, its binding protein MYH9, and the coding gene FOXE1 underlies the predisposition to PTC triggered by rs965513. 28049826 2017
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE To evaluate the association between rs965513 and PTC in different ethnicities and countries, we conducted a meta-analysis using relatively large-scale samples from 23 studies (N = 163,136; 20,736 cases and 142,400 controls) by searching the PubMed and Google Scholar databases. 27191655 2016
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE We genotyped rs965513 from PTC patients and measured gene expression levels by real-time RT-PCR in unaffected thyroid tissue and matched tumor. 25303483 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE Four GWAS-identified SNPs of papillary thyroid cancer (PTC), rs965513, rs944289, rs966423 and rs2439302, were genotyped in a case-control study of 838 patients with PTC and 501 patients with benign thyroid tumor (BTT) from the Chinese Han population. 25746573 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE The [A] allele of SNP rs965513 in 9q22 has been consistently shown to be highly associated with increased papillary thyroid cancer (PTC</span>) risk with an odds ratio of ∼1.8 as determined by genome-wide association studies, yet the molecular mechanisms remain poorly understood. 25918370 2015