rs521102

A SNP in the CHEK1 gene on chromosome 11. Its most notable genotype is G;G: normal

Gene
CHEK1
Location
Chr 11125,644,678 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
43%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableNot ratednormalTypical · 0.037% of people
  2. A;GNot ratednormalTypical · 0.046% of people
  3. A;ANot ratedpancreatic cancer patients respond poorer to combined therapyTypical · 0.017% of people

SNPedia records rs521102 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 37% A;G 46% A;A 17%
  • European ancestry (Utah)G;G 27% A;G 47% A;A 27%
  • Han Chinese (Beijing)G;G 32% A;G 50% A;A 18%
  • Japanese (Tokyo)G;G 38% A;G 43% A;A 19%
  • Yoruba (Nigeria)G;G 56% A;G 40% A;A 5%
  • African ancestry (Southwest US)G;G 48% A;G 43% A;A 9%
  • Chinese (Denver)G;G 32% A;G 52% A;A 17%
  • Gujarati IndianG;G 19% A;G 58% A;A 23%
  • Luhya (Kenya)G;G 64% A;G 31% A;A 6%
  • Mexican ancestry (Los Angeles)G;G 14% A;G 47% A;A 40%
  • Maasai (Kenya)G;G 57% A;G 37% A;A 6%
  • TuscanG;G 22% A;G 56% A;A 23%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs521102, also known as IVS11 +35, G>A, is a SNP in the CHEK1 gene. In a study of 119 American patients with potentially resectable pancreatic cancer, the rs521102(T) allele was associated with poorer overall survival (ie response) to combined gerncitabine radiation therapy. Also, as 1 of 3 SNPs its risk allele is associated with poorer overall survival for pancreatic cancer patients being treated with combined gerncitabine radiation therapy; median overall survival times of 31.0, 16.2, and 10.5 months were calculated for pancreatic cancer patients carrying < or = 1, 2, and 3 risk alleles from rs664143(C), rs2227928(C), and rs521102(T;T), respectively (P=0.004).

Source and license

Adapted from rs521102 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.