rs35850753

This variant is located in the TP53 gene.

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GWAS Catalog Trait Associations (8)

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

basal cell carcinoma

Seviiri M et al. “A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.” Nature Communications 13(1):7650 (2022)
Allele T
OR —
p 3.0e-38
N 307,684
Large GWAS
European

central nervous system cancer

Kinnersley B et al. “Genome-wide association study identifies multiple susceptibility loci for glioma.” Nature Communications 6:8559 (2015)
Allele T
OR 2.53
p 9.0e-20
N 11,582
Large GWAS
European

high density lipoprotein cholesterol measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 5.0e-13
N 450,015
Large GWAS
multi-ancestry

total lipids in medium HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 3.0e-12
N 450,015
Large GWAS
multi-ancestry

concentration of medium HDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 4.0e-12
N 450,015
Large GWAS
multi-ancestry

glioblastoma multiforme

Kinnersley B et al. “Genome-wide association study identifies multiple susceptibility loci for glioma.” Nature Communications 6:8559 (2015)
Allele T
OR 2.79
p 4.0e-12
N 9,218
Large GWAS
European

phospholipids in medium HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry

neuroblastoma

McDaniel LD et al. “Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.” Plos Genetics 13(5):e1006787 (2017)
Allele T
OR 1.95
p 1.0e-8
N 6,303
Large GWAS
multi-ancestry
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ClinVar annotation

Likely Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (2)

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Genetic variants in the liver kinase B1‐AMP‐activated protein kinase pathway genes and pancreatic cancer risk
Meta-analysisN=15,418Xinyuan Xu et al.(2019)· Molecular Carcinogenesis

Meta-analysis of genetic variants in LKB1-AMPK pathway genes identifies six novel SNPs associated with pancreatic cancer risk in 15,418 European ancestry participants from PanScan and PanC4 cohorts. The study found that MAP2 rs35075084 (T>deletion), PRKAG2 rs2727572 (C>T) and rs34852782 (A>deletion), TP53 rs9895829 (A>G), and RPTOR rs62068300 (G>A) and rs3751936 (G>C) were significantly associated with increased pancreatic cancer risk (OR=1.24, 95% CI=1.16-1.32 for carriers with 5-6 unfavorable genotypes, P<0.0001). Expression quantitative trait loci analysis revealed these variants influence mRNA expression levels of their corresponding genes.

Traits studied:Pancreatic cancer
PubMedDOIMetascience Observatory
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Further Confirmation of Germline Glioma Risk Variant rs78378222 inTP53and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data
AssociationN=6,811Wang Z. et al.(2015)· Human Mutation

This study confirms that rs78378222:A>C, a rare germline variant in the TP53 3' untranslated region, confers strong glioma risk (OR=3.14, p=6.48×10⁻¹¹) in a GWAS of 1,856 cases and 4,955 controls. Integrative analysis of TCGA data revealed that the risk allele C disrupts mRNA termination causing aberrant transcripts (~3 kb longer), while the protective allele A is somatically deleted in glioblastoma tissues, supporting a two-hit mechanism in tumor development.

Traits studied:Brain tumorsGlioblastoma multiforme (GBM)GliomaLung adenocarcinoma (LUAD)
PubMedDOIMetascience Observatory

About TP53

This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]

View all TP53 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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