rs2538976

A SNP in the CNTNAP2 gene on chromosome 7. Its most notable genotype is T;T.

Gene
CNTNAP2
Location
Chr 7147,888,727 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
47%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableNot ratedNo summary available.Typical · 0.028% of people
  2. C;TNot ratedNo summary available.Typical · 0.047% of people
  3. C;CBadhigher risk for speech development delay and/or impairmentTypical · 0.024% of people

SNPedia records rs2538976 on the minus strand: (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.

  • AverageT;T 28% C;T 47% C;C 24%
  • European ancestry (Utah)T;T 26% C;T 46% C;C 28%
  • Han Chinese (Beijing)T;T 37% C;T 48% C;C 15%
  • Japanese (Tokyo)T;T 31% C;T 51% C;C 18%
  • Yoruba (Nigeria)T;T 34% C;T 44% C;C 23%
  • African ancestry (Southwest US)T;T 23% C;T 47% C;C 30%
  • Chinese (Denver)T;T 32% C;T 49% C;C 19%
  • Gujarati IndianT;T 27% C;T 55% C;C 18%
  • Luhya (Kenya)T;T 37% C;T 45% C;C 18%
  • Mexican ancestry (Los Angeles)T;T 28% C;T 43% C;C 29%
  • Maasai (Kenya)T;T 13% C;T 45% C;C 42%
  • TuscanT;T 23% C;T 48% C;C 29%

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 5.0x10–5) between nonsense-word repetition and nine intronic SNPs (rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117)

Source and license

Adapted from rs2538976 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.