rs1045485

A SNP in the CASP8 gene on chromosome 2. Its most notable genotype is C;C: Reduced Risk of Breast Cancer

Gene
CASP8
Location
Chr 2201,284,866 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
7%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodReduced Risk of Breast CancerWorth knowing · 2.0<1% of people
  2. C;GGoodslightly (0.89x) lowered risk for breast cancerMinor · 1.56% of people
  3. G;GGoodcommon/normalTypical · 0.093% of people

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

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageC;C <1% C;G 6% G;G 93%
  • European ancestry (Utah)C;C 2% C;G 22% G;G 77%
  • Han Chinese (Beijing)C;C 0% C;G 0% G;G 100%
  • Japanese (Tokyo)C;C 0% C;G 0% G;G 100%
  • Yoruba (Nigeria)C;C 0% C;G 3% G;G 97%

Conditions, medicines and genes

Other CASP8 SNPs

All CASP8 SNPs

Notes

From SNPedia

Show notes, about 150 words

rs1045485, also known as D302H, is a SNP in the caspase-8 CASP8 gene. PMID 15601643, PMID 17018785, PMID 17293864 Several large studies indicate that the (C) allele of this SNP, located in exon 10 of the CASP8 gene, may reduce the risk of breast cancer in a dose dependent manner. The odds ratio is 0.89 for (C;G) and 0.74 for (C;C) carriers. article cancergenetics A 4-SNP haplotype including rs1045485 was significantly associated with breast cancer in a large European study (3,000+ cases, 3,000+ controls), with a per allele odds ratio of 1.3 (CI:1.12-1.49). chronic lymphocytic leukemia rs2266690 rs17028658 rs4505265 rs1045485 rs2779251 rs3136687 showed no association with ovarian cancer risk 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin ovarian cancer No association seen between rs1045485 and colorectal cancer in 4,000 UK cases.

C;G

see discussion at rs1045485

Source and license

Adapted from rs1045485 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.