rs17236239

A SNP in the CNTNAP2 gene on chromosome 7. Its most notable genotype is G;G: higher risk for speech development delay and/or impairment

Gene
CNTNAP2
Location
Chr 7147,885,213 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
24%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ANot ratedNo summary available.Typical · 0.064% of people
  2. A;GNot ratedNo summary available.Typical · 0.030% of people
  3. G;GMost notableNot ratedhigher risk for speech development delay and/or impairmentWorth knowing · 2.06% of people

On SNPedia: (A;A), (A;G), (G;G). 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.

  • AverageA;A 64% A;G 30% G;G 6%
  • European ancestry (Utah)A;A 40% A;G 50% G;G 11%
  • Han Chinese (Beijing)A;A 64% A;G 30% G;G 6%
  • Japanese (Tokyo)A;A 61% A;G 34% G;G 5%
  • Yoruba (Nigeria)A;A 90% A;G 10% G;G <1%
  • African ancestry (Southwest US)A;A 84% A;G 16% G;G 0%
  • Chinese (Denver)A;A 60% A;G 37% G;G 4%
  • Gujarati IndianA;A 51% A;G 43% G;G 7%
  • Luhya (Kenya)A;A 92% A;G 8% G;G 0%
  • Mexican ancestry (Los Angeles)A;A 56% A;G 33% G;G 11%
  • Maasai (Kenya)A;A 67% A;G 27% G;G 6%
  • TuscanA;A 42% A;G 45% G;G 14%

Conditions, medicines and genes

Other CNTNAP2 SNPs

All CNTNAP2 SNPs

Notes

From SNPedia

Notes

Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10&#8211;5) between nonsense-word repetition and nine intronic SNPs (rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117) 23andMe blog g2b2mh discusses this snp nejm CNTNAP2 variants affect early language development in the general population.

Source and license

Adapted from rs17236239 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.