rs2228000

A SNP in the XPC gene on chromosome 3. Its most notable genotype is A;A: statistically significant, but slight, increase in bladder cancer risk

Gene
XPC
Location
Chr 314,158,387 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
25%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodnormalTypical · 0.064% of people
  2. A;GNot ratednormalTypical · 0.030% of people
  3. A;AMost notableBadstatistically significant, but slight, increase in bladder cancer riskMinor · 1.06% of people

SNPedia records rs2228000 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 64% A;G 30% A;A 6%
  • European ancestry (Utah)G;G 50% A;G 43% A;A 7%
  • Han Chinese (Beijing)G;G 48% A;G 39% A;A 13%
  • Japanese (Tokyo)G;G 34% A;G 46% A;A 20%
  • Yoruba (Nigeria)G;G 94% A;G 6% A;A 0%
  • African ancestry (Southwest US)G;G 67% A;G 32% A;A 2%
  • Chinese (Denver)G;G 41% A;G 44% A;A 15%
  • Gujarati IndianG;G 73% A;G 22% A;A 5%
  • Luhya (Kenya)G;G 88% A;G 12% A;A 0%
  • Mexican ancestry (Los Angeles)G;G 59% A;G 36% A;A 5%
  • Maasai (Kenya)G;G 86% A;G 14% A;A 0%
  • TuscanG;G 60% A;G 36% A;A 4%

Conditions, medicines and genes

Other XPC SNPs

All XPC SNPs

Notes

From SNPedia

Notes

rs2228000, also known as Ala499Val and A499V, is a SNP in the DNA nuclear excision repair gene xeroderma pigmentosum complementation group C XPC gene. The Val (V) allele is encoded by the rs2228000(T) allele. A meta-analysis of 11 studies with 5581 cancer cases and 6351 controls concluded that rs2228000(T;T) homozygotes had an increased overall cancer risk (odds ratio of 1.24, CI: 1.08-1.42) compared with (C;C) homozygotes. This was primarily a risk for bladder cancer.

Source and license

Adapted from rs2228000 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.