rs2464196

A SNP in the HNF1A gene on chromosome 12. Its most notable genotype is A;A: ~2x increased lung cancer risk

Gene
HNF1A
Location
Chr 12120,997,624 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
33%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodnormalTypical · 0.050% of people
  2. A;GBad~1.5x increased lung cancer riskMinor · 1.538% of people
  3. A;AMost notableBad~2x increased lung cancer riskWorth knowing · 2.012% of people

SNPedia records rs2464196 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 50% A;G 38% A;A 12%
  • European ancestry (Utah)G;G 47% A;G 46% A;A 7%
  • Han Chinese (Beijing)G;G 23% A;G 58% A;A 19%
  • Japanese (Tokyo)G;G 12% A;G 53% A;A 35%
  • Yoruba (Nigeria)G;G 82% A;G 17% A;A 1%
  • African ancestry (Southwest US)G;G 74% A;G 26% A;A 0%
  • Chinese (Denver)G;G 32% A;G 47% A;A 21%
  • Gujarati IndianG;G 36% A;G 45% A;A 20%
  • Luhya (Kenya)G;G 76% A;G 22% A;A 2%
  • Mexican ancestry (Los Angeles)G;G 48% A;G 38% A;A 14%
  • Maasai (Kenya)G;G 76% A;G 23% A;A 1%
  • TuscanG;G 45% A;G 45% A;A 11%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 130 words

rs2464196 is a SNP that was originally associated with C-reactive protein levels, and given other findings that suggest C-reactive protein levels may be predictive of cancer risk, was thought to be linked to cancer risk. A large study pooling data from 3 Finnish studies totaling over 18,000 individuals concluded that while this SNP is not likely to be causative (relative to cancer), it and one other CRP SNP (rs1169300) are associated with increased risk for lung cancer. The odds ratio for minor alleles of either SNP was about 1.5x and 2x for heterozygotes and homozygotes, respectively. One other CRP SNP (rs1892534) was associated with increased overall cancer risk. CRP SNPs were not associated with colorectal, prostate or breast cancer risk.

Source and license

Adapted from rs2464196 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.