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.
- 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)
- A;GGood0.5x decreased risk for cervical cancer, HNSCC, and breast cancer (reported in 2008)
- A;ABad1.5x - 2x increased risk for cervical cancer, HNSCC, and breast cancer (reported in 2008)
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%
Related
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.