{{Rsnum
|rsid=2710102
|Gene=CNTNAP2
|Chromosome=7
|position=147877298
|Orientation=minus
|GMAF=0.3999
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CNTNAP2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 29.2 | 46.9 | 23.9
| HCB | 33.1 | 45.6 | 21.3
| JPT | 51.8 | 43.8 | 4.5
| YRI | 48.6 | 43.2 | 8.2
| ASW | 42.1 | 47.4 | 10.5
| CHB | 33.1 | 45.6 | 21.3
| CHD | 30.3 | 48.6 | 21.1
| GIH | 17.8 | 55.4 | 26.7
| LWK | 51.8 | 37.3 | 10.9
| MEX | 39.7 | 43.1 | 17.2
| MKK | 60.9 | 34.0 | 5.1
| TSI | 29.4 | 48.0 | 22.5
| HapMapRevision=28
}}
[[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.{{PMID|18179893|OA=1
}}

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.{{PMID|18179893|OA=1
}}

{{PMID|18987363|OA=1
}} [[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]])

{{ neighbor
| rsid = 759178
| distance = 722
}}

{{omim
|id=604569
|desc=CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2
|rsnum=2710102
}}

{{PharmGKB
|RSID=rs2710102
|Name_s=
|Gene_s=CNTNAP2
|Feature=
|Evidence=PubMed ID:18179893
|Annotation=This variant in CNTNAP2 is associated with delay of speech in autism spectrum disorder samples and appeared to be most pronounced in males.
|Drugs=
|Drug Classes=
|Diseases=Autistic Disorder
|Curation Level=Curated
|PharmGKB Accession ID=PA162168113
}}

{{omim
|id=604569
|rsnum=2710102
|variant=0002
}}

{{PMID Auto
|PMID=21193173
|Title=A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits.
|OA=1
}}

{{PMID Auto
|PMID=21310003
|Title=CNTNAP2 variants affect early language development in the general population.
|OA=1
}}

{{PMID Auto
|PMID=21987501
|Title=Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2710102
|overall_frequency_n=82
|overall_frequency_d=128
|overall_frequency=0.640625
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=75
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23123147
|Title=CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population.
}}

{{PMID Auto
|PMID=23277129
|Title=Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}