rs2228001

A SNP in the XPC gene on chromosome 3. Its most notable genotype is T;T.

Gene
XPC
Location
Chr 314,145,949 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
34%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableNot ratedNo summary available.Typical · 0.046% of people
  2. G;TNot ratednormalTypical · 0.044% of people
  3. G;GGoodnormalTypical · 0.010% of people

SNPedia records rs2228001 on the minus strand: (A;A), (A;C), (C;C). 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.

  • AverageT;T 46% G;T 44% G;G 10%
  • European ancestry (Utah)T;T 35% G;T 48% G;G 17%
  • Han Chinese (Beijing)T;T 39% G;T 48% G;G 13%
  • Japanese (Tokyo)T;T 44% G;T 43% G;G 13%
  • Yoruba (Nigeria)T;T 52% G;T 42% G;G 7%
  • African ancestry (Southwest US)T;T 47% G;T 42% G;G 11%
  • Chinese (Denver)T;T 44% G;T 51% G;G 6%
  • Gujarati IndianT;T 38% G;T 57% G;G 5%
  • Luhya (Kenya)T;T 56% G;T 36% G;G 9%
  • Mexican ancestry (Los Angeles)T;T 45% G;T 53% G;G 2%
  • Maasai (Kenya)T;T 70% G;T 26% G;G 5%
  • TuscanT;T 34% G;T 43% G;G 23%

Conditions, medicines and genes

Other XPC SNPs

All XPC SNPs

Notes

From SNPedia

Notes

rs2228001, also known as Lys939Gln, K939Q, and K940Q, is a SNP in the DNA nuclear excision repair gene xeroderma pigmentosum complementation group C XPC gene. The Lys (K) allele is encoded by the rs2228001(A) allele. A meta-analysis of 16 studies with 6797 cancer cases and 9018 controls concluded that rs2228001(C;C) homozygotes had an increased overall cancer risk (odds ratio of 1.16, CI: 1.05-1.28) compared with (A;A) homozygotes. This was primarily a risk for lung cancer.

Source and license

Adapted from rs2228001 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.