rs2297950

A SNP in the CHIT1 gene on chromosome 1. Its most notable genotype is C;C: common in clinvar

Gene
CHIT1
Location
Chr 1203,225,058 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
30%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodcommon in clinvarTypical · 0.052% of people

On SNPedia: (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.

  • AverageC;C 52%
  • European ancestry (Utah)C;C 44%
  • Han Chinese (Beijing)C;C 54%
  • Japanese (Tokyo)C;C 40%
  • Yoruba (Nigeria)C;C 52%
  • African ancestry (Southwest US)C;C 42%
  • Chinese (Denver)C;C 53%
  • Gujarati IndianC;C 55%
  • Luhya (Kenya)C;C 58%
  • Mexican ancestry (Los Angeles)C;C 53%
  • Maasai (Kenya)C;C 71%
  • TuscanC;C 48%

Notes

From SNPedia

Notes

Rs2297950 is a single nucleotide polymorphism at position 102 (Gly102Arg) in the chitotriosidase gene which results in chitotriosidase deficiency, implicated in altered defense against chitin containing organisms and in some inflammatory conditions such as inflammatory bowel disease and asthma.

Source and license

Adapted from rs2297950 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.