rs3738579

A SNP in the RNASEL gene on chromosome 1. Its most notable genotype is G;G: 0.6x decreased risk for cervical cancer, but 1.4x increased risk for HNSCC and 1.8x increased risk for breast cancer (reported in 2008)

Gene
RNASEL
Location
Chr 1182,586,901 (GRCh38)
Highest magnitude
1.1Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
24%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBad0.6x decreased risk for cervical cancer, but 1.4x increased risk for HNSCC and 1.8x increased risk for breast cancer (reported in 2008)Minor · 1.15% of people
  2. A;GGood0.5x decreased risk for cervical cancer, HNSCC, and breast cancer (reported in 2008)Minor · 1.129% of people
  3. A;ABad1.5x - 2x increased risk for cervical cancer, HNSCC, and breast cancer (reported in 2008)Minor · 1.166% of people

SNPedia records rs3738579 on the minus strand: (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.

  • AverageG;G 5% A;G 29% A;A 66%
  • European ancestry (Utah)G;G 12% A;G 50% A;A 38%
  • Han Chinese (Beijing)G;G 5% A;G 36% A;A 59%
  • Japanese (Tokyo)G;G 6% A;G 24% A;A 70%
  • Yoruba (Nigeria)G;G 0% A;G 14% A;A 86%
  • African ancestry (Southwest US)G;G 0% A;G 23% A;A 77%
  • Chinese (Denver)G;G 4% A;G 31% A;A 65%
  • Gujarati IndianG;G 14% A;G 47% A;A 40%
  • Luhya (Kenya)G;G 0% A;G 4% A;A 96%
  • Mexican ancestry (Los Angeles)G;G 3% A;G 28% A;A 69%
  • Maasai (Kenya)G;G <1% A;G 21% A;A 79%
  • TuscanG;G 14% A;G 43% A;A 43%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 180 words

rs3738579 represents a SNP in the 5' UTR region upstream of the RNASEL gene. A study of patients diagnosed with carcinoma of the uterine cervix, head and neck squamous cell carcinomas (HNSCC), and breast cancer found 1.5x-2x increased risk for all three cancer types for the rs3738579(T;T) genotype, while finding decreased risk (0.5x) for rs3738579(C;T) heterozygotes. rs3738579(C;C) homozygotes had 0.6x less risk for cervical cancer but increased risk for HNSCC (1.4x) and breast cancer (1.8x). Although statistics were not reported per genotype, a combination of data from all three cancer forms over all genotypes provided strong statistical evidence for rs3738579 as a cancer marker, with a p-value of 4.43x10(-5). Note that the research cited above was published over a decade ago, and there has been no follow-up or replication to our knowledge. It would be best to consider the research preliminary and perhaps of little to no clinical significance (until it is confirmed or replicated in a larger sample).

G;G

see discussion on main rs-page

A;G

see discussion on main rs-page

A;A

see discussion on main rs-page

Source and license

Adapted from rs3738579 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.