rs381949
This is a intron variant variant in the CLPTM1L gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lower urinary tract symptom, benign prostatic hyperplasia
Gudmundsson J et al. “Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.” Nature Communications 9(1):4568 (2018)
Allele G
OR 1.14
p 2.0e-28
N 301,162
Large GWAS
European
skin cancer
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 G
OR 0.07
p 3.0e-23
N 610,726
Major Consortium StudyLarge GWAS
multi-ancestry
Hematuria
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 G
OR 0.05
p 4.0e-14
N 601,567
Major Consortium StudyLarge GWAS
multi-ancestry
prostate specific antigen amount
Gudmundsson J et al. “Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.” Nature Communications 9(1):4568 (2018)
Allele A
OR —
β 0.038
p 5.0e-11
N 33,572
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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