rs2710102
A SNP in the CNTNAP2 gene on chromosome 7. Its most notable genotype is A;A: Delayed childhood speech.
- Gene
- CNTNAP2
- Location
- Chr 7147,877,298 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 40%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GBadhigher risk of speech development delay and/or impairment
- A;GNot ratedNo summary available.
- A;AMost notableNot ratedDelayed childhood speech.
SNPedia records rs2710102 on the minus strand: (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.
- AverageG;G 40% A;G 45% A;A 16%
- European ancestry (Utah)G;G 29% A;G 47% A;A 24%
- Han Chinese (Beijing)G;G 33% A;G 46% A;A 21%
- Japanese (Tokyo)G;G 52% A;G 44% A;A 5%
- Yoruba (Nigeria)G;G 49% A;G 43% A;A 8%
- African ancestry (Southwest US)G;G 42% A;G 47% A;A 11%
- Chinese (Denver)G;G 30% A;G 49% A;A 21%
- Gujarati IndianG;G 18% A;G 55% A;A 27%
- Luhya (Kenya)G;G 52% A;G 37% A;A 11%
- Mexican ancestry (Los Angeles)G;G 40% A;G 43% A;A 17%
- Maasai (Kenya)G;G 61% A;G 34% A;A 5%
- TuscanG;G 29% A;G 48% A;A 23%
Related
Conditions, medicines and genes
Other CNTNAP2 SNPs
- rs7794745A;Tslightly increased risk for autismWorth knowing
- rs17236239G;Ghigher risk for speech development delay and/or impairmentWorth knowing
- rs851715T;Trisk of nonsense-word repetition problems if speech-impairedMinor
- rs759178C;Chigher risk of speech development delay and/or impairmentTypical
- rs802568T;Tcommon in complete genomicsTypical
- rs1358075T;Tcommon genotypeTypical
- rs1718101C;CNo summary available.Typical
- rs2538976T;TNo summary available.Typical
Notes
From SNPedia
Show notes, about 140 words
rs2710102, a common SNP in the CNTNAP2 gene, was found to be significantly associated (p<0.028) with a delayed onset of speech, as measured by the age at which a child speaks their first words, in children with autism. This effect is primarily seen in males, perhaps correlated with the 4-5x overrepresentation of males with autism compared with females. The confirmatory Stage 2 study was performed on 304 independent parent-child trios. However, the risk allele and the degree to which speech is delayed per genotype is unclear as published and awaits clarification by the authors. 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 rs2710102 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.