rs13337626

This is a synonymous variant in the TSC2 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

level of polycystin-1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.13

p 7.0e-42

N 47,745

Large GWAS

European

alkaline phosphatase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.04

p 2.0e-20

N 355,891

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

21 submitters4 publications

Hereditary cancer-predisposing syndrome; Lymphangiomyomatosis (LAM); Tuberous sclerosis 2 (TSC2); Tuberous sclerosis syndrome (TSC); not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Interactions between environmental factors and polymorphisms in angiogenesis pathway genes in esophageal adenocarcinoma risk: A case‐only study

AssociationN=335Rihong Zhai et al.(2012)· Cancer

Case-only study of 335 esophageal adenocarcinoma (EA) patients examining gene-environment interactions in angiogenesis pathway genes. Identified significant interactions between SNPs in HIF1AN, TSC2, VEGFR1, PDGFRA, and PDGFRB with GERD, smoking, and BMI. Notable findings include rs2295778 (HIF1AN)-GERD with OR=2.23 (p=0.0005) and dose-response effects with cumulative risk genotypes (OR=12.07 for >5 risk genotypes vs BMI≥25).

Traits studied:Body mass indexEsophageal adenocarcinomaGERDSmoking exposure

PubMed DOI Metascience Observatory

About TSC2

This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]