rs370348
This is a regulatory region variant variant in the CLPTM1L gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Uveal Melanoma
Mobuchon L et al. “Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas.” Journal of the National Cancer Institute 114(2):302-309 (2022)
Allele G
OR 1.59
p 1.0e-8
N 2,024
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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