rs459961
This is a intron variant variant in the CLPTM1L gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
squamous cell lung carcinoma
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 0.84
p 1.0e-37
N 135,790
Large GWAS
multi-ancestry
upper aerodigestive tract neoplasm
Lesseur C et al. “Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers.” Plos Genetics 17(3):e1009254 (2021)
Allele A
OR 0.88
p 6.0e-19
N 75,848
Meta-analysisLarge GWAS
European
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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