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Learn · Variants · CLPTM1L

rs383009 CLPTM1L

C allele associated with decreased risk of Basal cell carcinoma (PheCode 172.21) (OR=0.15). [GWAS Catalog]

Imported from public databases · not individually reviewed Health risk · Risk / effect allele: C · dbSNP

What is rs383009?

rs383009 is a single-nucleotide polymorphism (SNP) in the CLPTM1L gene. Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as CC. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs383009 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
CCtypical / lowerC allele associated with decreased risk of Basal cell carcinoma (PheCode 172.21) (OR=0.15). [GWAS Catalog]95%

Is rs383009 on 23andMe and AncestryDNA chips?

Chip coverage is not recorded for this variant. Orviva reports it when a raw-data file contains it directly or via a well-correlated proxy SNP, and says so when it does not.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.