rs965513

This variant is located in the PTCSC2 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

thyroid disease, drug use measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.24

p 3.0e-133

N 315,668

Major Consortium StudyLarge GWAS

European

thyroid carcinoma

Feng X et al. “Association Between Genetic Risk, Adherence to Healthy Lifestyle Behavior, and Thyroid Cancer Risk.” Jama Network Open 5(12):e2246311 (2022)

Allele G

OR 0.52

p 6.0e-40

N 103,880

Large GWAS

European

Gudmundsson J et al. “Discovery of common variants associated with low TSH levels and thyroid cancer risk” Nature Genetics (2009)

Allele G

OR 1.75

p 2.0e-27

N 37,388

Large GWAS

European

Köhler A et al. “Genome-wide association study on differentiated thyroid cancer.” The Journal of Clinical Endocrinology and Metabolism 98(10):E1674-81 (2013)

Allele G

OR 1.78

p 3.0e-10

N 1,187

Large GWAS

European

Takahashi M et al. “The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl.” Human Molecular Genetics 19(12):2516-23 (2010)

Allele G

OR 1.65

p 5.0e-12

N 1,021

Large GWAS

European

Veronika Mancikova et al. “Thyroid cancer <scp>GWAS</scp> identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations” International Journal of Cancer (2015)

Allele G

OR 1.65

p 3.0e-23

N 900

Small GWAS

European

hypothyroidism

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.21

p 4.0e-22

N 445,823

Major Consortium StudyLarge GWAS

European

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)

Allele A

OR 0.31

p 2.0e-12

N 268,986

Large GWAS

multi-ancestry

goiter

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.28

p 8.0e-13

N 449,257

Major Consortium StudyLarge GWAS

European

thyroid disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.15

p 3.0e-13

N 621,674

Major Consortium StudyLarge GWAS

multi-ancestry

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Research that mentions this SNP (2)

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Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma

MethodsChang Myeon Song et al.(2015)· Environmental and Molecular Mutagenesis

This is a methods chapter describing high-resolution melting (HRM) for SNP detection in papillary thyroid carcinoma research. The paper reviews SNPs associated with PTC development and progression, including variants in FAS (rs2234978), DICER1 (rs3742330), TAS2R3/4 (rs2270009, rs2234001), ATM (rs373759, rs664143, rs4585), TITF1/TITF2 (rs944289, rs965513, rs1443434), MDM2 (rs2279744, rs3730485), BRCA1 (rs1799950, rs799917, rs16941, rs16942, rs1060915, rs1799966), VEGF-A, MMP9 (rs1562), and others associated with tumor characteristics and PTC risk.

Traits studied:Extrathyroidal extensionLymph node metastasisMultifocalityPapillary thyroid carcinomaTNM stageThyroid cancerTumor size

PubMed DOI Metascience Observatory

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Significant SNPs have limited prediction ability for thyroid cancer

AssociationN=1,850Shicheng Guo et al.(2014)· Cancer Medicine

Case-control study genotyping five thyroid cancer-associated SNPs (rs965513 OR=1.53, rs944289 OR=1.51, rs966423 OR=1.32, rs2439302 OR=1.40; rs116909374 not detected) in 845 Han Chinese papillary thyroid carcinoma cases and 1,005 controls. Although significant associations were confirmed, prediction accuracy was limited (AUC 0.54-0.60 across nine machine learning methods) with low sensitivity (0.28-0.48), indicating minimal clinical utility despite large odds ratios.

Traits studied:Papillary thyroid carcinomaThyroid cancer

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

rs965513

GWAS Catalog Trait Associations (5)

thyroid disease, drug use measurement

thyroid carcinoma

hypothyroidism

goiter

thyroid disease

Research that mentions this SNP (2)

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