rs759178

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

Gene
CNTNAP2
Location
Chr 7147,878,020 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
40%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratedhigher risk of speech development delay and/or impairmentTypical · 0.039% of people
  2. A;CNot ratedNo summary available.Typical · 0.045% of people
  3. A;ANot ratedNo summary available.Typical · 0.016% of people

SNPedia records rs759178 on the minus strand: (G;G), (G;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 39% A;C 45% A;A 16%
  • European ancestry (Utah)C;C 30% A;C 46% A;A 24%
  • Han Chinese (Beijing)C;C 33% A;C 46% A;A 21%
  • Japanese (Tokyo)C;C 51% A;C 45% A;A 5%
  • Yoruba (Nigeria)C;C 48% A;C 43% A;A 9%
  • African ancestry (Southwest US)C;C 42% A;C 47% A;A 11%
  • Chinese (Denver)C;C 31% A;C 48% A;A 21%
  • Gujarati IndianC;C 18% A;C 55% A;A 27%
  • Luhya (Kenya)C;C 51% A;C 38% A;A 11%
  • Mexican ancestry (Los Angeles)C;C 40% A;C 43% A;A 17%
  • Maasai (Kenya)C;C 61% A;C 34% A;A 5%
  • TuscanC;C 29% A;C 48% A;A 23%

Conditions, medicines and genes

Other CNTNAP2 SNPs

All CNTNAP2 SNPs

Notes

From SNPedia

Notes

Reported to be in very tight (r 2 >0.98) linkage with rs2710102, and thus potentially associated with autism. Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10–5) between nonsense-word repetition and nine intronic SNPs (rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. CNTNAP2 variants affect early language development in the general population.

Source and license

Adapted from rs759178 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.