rs401681

A SNP in the CLPTM1L gene on chromosome 5. Its most notable genotype is C;C: ~1.2x increased risk for several types of cancer

Gene
CLPTM1L
Location
Chr 51,321,972 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
44%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableBad~1.2x increased risk for several types of cancerMinor · 1.535% of people
  2. C;TBad~1.2x increased risk for several types of cancerMinor · 1.547% of people
  3. T;TNot ratednormalTypical · 0.018% of people

On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageC;C 35% C;T 47% T;T 18%
  • European ancestry (Utah)C;C 33% C;T 48% T;T 20%
  • Han Chinese (Beijing)C;C 49% C;T 40% T;T 11%
  • Japanese (Tokyo)C;C 38% C;T 52% T;T 10%
  • Yoruba (Nigeria)C;C 14% C;T 48% T;T 38%
  • African ancestry (Southwest US)C;C 23% C;T 42% T;T 35%
  • Chinese (Denver)C;C 51% C;T 41% T;T 7%
  • Gujarati IndianC;C 64% C;T 32% T;T 4%
  • Luhya (Kenya)C;C 19% C;T 54% T;T 27%
  • Mexican ancestry (Los Angeles)C;C 33% C;T 59% T;T 9%
  • Maasai (Kenya)C;C 30% C;T 49% T;T 21%
  • TuscanC;C 30% C;T 55% T;T 15%

Conditions, medicines and genes

Other CLPTM1L SNPs

All CLPTM1L SNPs

Notes

From SNPedia

Show notes, about 150 words

rs401681 is a SNP in the CLPTM1-like CLPTM1 gene. The following studies span several types of cancer, and over 30,000 cases and 45,000 controls. deCODE press release reports rs401681 linked to basal cell carcinoma and many cancers for individuals with shorter telomeres, whereas those with long telomeres are at greater risk of melanoma. Neighboring rs2736098 also increases risk of cancer by affecting telomerase reverse transcriptase. The risk of these different cancers conferred by these two SNPs appears to be independent. 23andMe blog rs2736098 and rs401681 linked to many cancers, including susceptibility to pancreatic cancer However, a very large study (encompassing thousands of cases and controls) found no association between rs401681 and either (1) mean telomere length, or, (2) breast cancer, colorectal cancer, or melanoma. lung cancer rs401681 P = 7.90 x 10(-9) Prostate-Specific Antigen

Source and license

Adapted from rs401681 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.