rs1801516
A SNP in the ATM gene on chromosome 11. Its most notable genotype is A;A: 2.76x odds of pancreatic cancer, but 0.86x reduced risk of melanoma
- Gene
- ATM
- Location
- Chr 11108,304,735 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 8%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBad2.76x odds of pancreatic cancer, but 0.86x reduced risk of melanoma
- A;GNot ratednormal
- G;GGoodnormal
On SNPedia: (A;A), (A;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 11 HapMap populations.
- AverageA;A <1% A;G 10% G;G 89%
- European ancestry (Utah)A;A <1% A;G 35% G;G 64%
- Han Chinese (Beijing)A;A 0% A;G 3% G;G 97%
- Japanese (Tokyo)A;A 0% A;G <1% G;G 99%
- Yoruba (Nigeria)A;A 0% A;G 0% G;G 100%
- African ancestry (Southwest US)A;A 2% A;G 2% G;G 97%
- Chinese (Denver)A;A 0% A;G <1% G;G 99%
- Gujarati IndianA;A 1% A;G 23% G;G 76%
- Luhya (Kenya)A;A 0% A;G 2% G;G 98%
- Mexican ancestry (Los Angeles)A;A 2% A;G 14% G;G 85%
- Maasai (Kenya)A;A 0% A;G <1% G;G 99%
- TuscanA;A 2% A;G 30% G;G 68%
Related
Other ATM SNPs
- rs147557621G;TBreast cancer associated mutationVery important
- rs200976093C;TBreast cancer associated mutationVery important
- rs376170600C;GBreast cancer associated mutationVery important
- rs376603775C;TBreast cancer associated mutationVery important
- rs529296539C;GBreast cancer associated mutationVery important
- rs587776551A;GBreast cancer associated mutationVery important
- rs587778080C;TBreast cancer associated mutationVery important
- rs587779813A;GBreast cancer associated mutationVery important
Notes
From SNPedia
Show notes, about 150 words
This SNP lies within the gene coding for ATM (Ataxia telegensia mutated), a main role of which is the repair of double-stranded DNA breaks. As such SNPs within this gene have been associated with susceptibility to cancer. Rs1801516(A,A) leads to homozygous expression of ATM(D1853N). Homozygotes for this mutation have been associated with increased likelihood of pancreatic cancer (OR, 2.55; 95% CI, 1.08-6.00; P = 0.032) . Despite early reports, the role of Rs1801516 in breast cancer is unclear . A meta-analysis concluded that this mutation was not a risk factor for developing breast cancer (GA vs GG:OR=1.18 (95%CI 0.90-1.53); AA vs GG:OR=0.77 (95%CI 0.58-1.03) . Similarly the (A,A) variant has been reported to be protective against Melanoma development (p=3.4×10−9, OR=0.84 overall) . ==References== DNA Repair Gene Polymorphisms and Risk of Pancreatic Cancer
Source and license
Adapted from rs1801516 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.