rs2447853

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

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GWAS Catalog Trait Associations (2)

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

benign prostatic hyperplasia

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 0.06

p 5.0e-42

N 533,499

Major Consortium StudyLarge GWAS

multi-ancestry

nevus count, cutaneous melanoma

Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)

Allele A

OR —

p 5.0e-33

N 477,725

Large 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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