rs7794745

A SNP in the CNTNAP2 gene on chromosome 7. Its most notable genotype is A;T: slightly increased risk for autism

Gene
CNTNAP2
Location
Chr 7146,792,514 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
48%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodnormal risk (for autism)Minor · 1.127% of people
  2. A;TMost notableBadslightly increased risk for autismWorth knowing · 2.042% of people
  3. T;TBadslightly increased risk for autismWorth knowing · 2.031% of people

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

  • AverageA;A 27% A;T 42% T;T 31%
  • European ancestry (Utah)A;A 48% A;T 42% T;T 11%
  • Han Chinese (Beijing)A;A 37% A;T 42% T;T 20%
  • Japanese (Tokyo)A;A 42% A;T 43% T;T 15%
  • Yoruba (Nigeria)A;A 1% A;T 21% T;T 78%
  • African ancestry (Southwest US)A;A 7% A;T 49% T;T 44%
  • Chinese (Denver)A;A 39% A;T 50% T;T 12%
  • Gujarati IndianA;A 35% A;T 57% T;T 8%
  • Luhya (Kenya)A;A <1% A;T 32% T;T 67%
  • Mexican ancestry (Los Angeles)A;A 48% A;T 43% T;T 9%
  • Maasai (Kenya)A;A 1% A;T 34% T;T 65%
  • TuscanA;A 38% A;T 51% T;T 11%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 120 words

A common SNP in the CNTNAP2 gene, rs7794745, is associated with increased risk for autism based on a study of 148 affected children from families with two more autistic children. Related article A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Do candidate genes discriminate patients with an autism spectrum disorder from those with attention deficit/hyperactivity disorder and is there an effect of lifetime substance use disorders? A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits. Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.

Source and license

Adapted from rs7794745 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.