rs5770917

A SNP in the CHKB-CPT1B gene on chromosome 22. Its most notable genotype is C;C: >1.4x increased risk for narcolepsy

Gene
CHKB-CPT1B
Location
Chr 2250,578,924 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
12%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot rated>1.4x increased risk for narcolepsyTypical · 0.02% of people
  2. C;TBad1.4x increased risk for narcolepsyTypical · 0.020% of people
  3. T;TGoodnormalTypical · 0.078% of people

On SNPedia: (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.

  • AverageC;C 2% C;T 20% T;T 78%
  • European ancestry (Utah)C;C 0% C;T 10% T;T 90%
  • Han Chinese (Beijing)C;C 9% C;T 29% T;T 63%
  • Japanese (Tokyo)C;C 3% C;T 38% T;T 59%
  • Yoruba (Nigeria)C;C 0% C;T 7% T;T 93%
  • African ancestry (Southwest US)C;C 0% C;T 7% T;T 93%
  • Chinese (Denver)C;C 6% C;T 36% T;T 58%
  • Gujarati IndianC;C 2% C;T 35% T;T 63%
  • Luhya (Kenya)C;C 0% C;T 9% T;T 91%
  • Mexican ancestry (Los Angeles)C;C 7% C;T 35% T;T 59%
  • Maasai (Kenya)C;C 0% C;T 3% T;T 97%
  • TuscanC;C 0% C;T 7% T;T 93%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs5770917, a SNP located between the CPT1B and CHKB genes, was associated with narcolepsy in study of 222 Japanese individuals with narcolepsy and 389 Japanese controls, with replication of top hits in 159 Japanese individuals with narcolepsy and 190 Japanese controls, followed by the testing of 424 Koreans, 785 individuals of European descent and 184 African Americans. The risk allele rs5770917(C) had an odds ratio of 1.79 (p = 4.4 x 10e-7) in Japanese subjects and an odds ratio of 1.40 (p = 0.02) in other ancestry groups. Note that rs5770917 is in tight linkage (r2 > 0.93) with several nearby SNPs: rs2269382 and rs2269381. HLA-DQB1*0602 and relevance to Narcolepsy related to vaccination

Source and license

Adapted from rs5770917 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.