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 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
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
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
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
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE The association of both rs965513 (p=1.27×10(-4), OR=1.69, 95% CI 1.29 to 2.21) and rs944289 (p=0.0121, OR=1.21, 95% CI 1.04 to 1.39) with the risk of sporadic PTC was confirmed. 21730105 2011
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
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
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE A genome-wide association study of papillary thyroid carcinoma (PTC) pinpointed two independent SNPs (rs944289 and rs965513) located in regions containing no annotated genes (14q13.3 and 9q22.33, respectively). 22586128 2012
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
0.060 GeneticVariation BEFREE Of those, rs965513 has previously been shown to associate with thyroid cancer. 22267200 2012
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.060 GeneticVariation BEFREE Of those, rs965513 has previously been shown to associate with thyroid cancer. 22267200 2012
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
0.060 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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.060 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
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.010 GeneticVariation BEFREE In particular, two reported risk variants were associated with the disease: rs965513 (allele A) with familial (OR = 2·30, 95% CI = 1·48-3·59, P = 0·0002) and sporadic (OR = 2·81, 95% CI = 1·87-4·22, P < 0·0001) NMTC and rs1867277 (allele A) with the sporadic (OR = 1·76, 95% CI = 1·18-2·62, P = 0·0052) and combined NMTC cases (OR = 1·70, 95% CI = 1·21-2·40, P = 0·0022). 22882326 2012
Nonmedullary Thyroid Carcinoma
CUI: C3501843
Disease: Nonmedullary Thyroid Carcinoma
0.010 GeneticVariation BEFREE In particular, two reported risk variants were associated with the disease: rs965513 (allele A) with familial (OR = 2·30, 95% CI = 1·48-3·59, P = 0·0002) and sporadic (OR = 2·81, 95% CI = 1·87-4·22, P < 0·0001) NMTC and rs1867277 (allele A) with the sporadic (OR = 1·76, 95% CI = 1·18-2·62, P = 0·0052) and combined NMTC cases (OR = 1·70, 95% CI = 1·21-2·40, P = 0·0022). 22882326 2012
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
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE Four candidate loci, rs965513 (9q22.33), rs944289 (14q13.3), rs966423 (2q35) and rs2439302 (8p12), identified by GWAS for PTC risk were confirmed in a Chinese population. 23847140 2013
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.060 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
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
0.060 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