rs31490

This is a splice region variant variant in the CLPTM1L gene.

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GWAS Catalog Trait Associations (4)

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

lung cancer

Gorman BR et al. “Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk.” Nature Communications 15(1):8629 (2024)
Allele A
OR 0.88
p 8.0e-40
N 158,822
Large GWAS
European

cutaneous melanoma

Liyanage UE et al. “Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma.” The Journal of Investigative Dermatology 142(6):1607-1616 (2022)
Allele G
OR 0.09
p 3.0e-36
N 380,287
Large GWAS
European

level of uteroglobin 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 A
OR 0.05
p 5.0e-27
N 47,745
Large GWAS
European

melanoma

Ingold N et al. “Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma: A Genome-Wide Association Study Meta-Analysis.” Jama Dermatology 160(9):964-971 (2024)
Allele A
OR 0.17
p 1.0e-26
N 745,746
Meta-analysisLarge GWAS
European
Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)
Allele A
OR 1.18
p 1.0e-13
N 417,127
Large GWAS
European
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Research that mentions this SNP (1)

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Case–Control Study on Impact of the Telomerase Reverse Transcriptase Gene Polymorphism and Additional Single Nucleotide Polymorphism (SNP)– SNP Interaction on Non‐Small Cell Lung Cancers Risk in Chinese Han Population
AssociationN=828Yan‐li Xing et al.(2016)· Journal of Clinical Laboratory Analysis

Case-control study of 828 Chinese Han participants (410 NSCLC cases, 418 controls) examining TERT gene polymorphisms and their SNP-SNP interactions on non-small cell lung cancer risk. Carriers of the G allele at rs2736100 showed increased NSCLC risk (OR=1.68, 95% CI: 1.28-2.07), as did carriers of the A allele at rs2736098 (OR=1.52, 95% CI: 1.19-1.93). A significant gene-gene interaction was found between rs2736098 and rs2736100 (OR=2.52, 95% CI: 1.68-3.68 for GA/AA and TG/GG combined genotypes versus reference).

Traits studied:Lung adenocarcinomaLung cancerNon-small cell lung cancer
PubMedDOIMetascience Observatory

About CLPTM1L

The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]

View all CLPTM1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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