rs2710102
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | higher risk of speech development delay and/or impairment | |
| (C;T) | None | |
| (T;T) | 2 | Delayed childhood speech. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 147877298 |
| Gene | CNTNAP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2710102 |
| dbSNP (classic) | rs2710102 |
| ClinGen | rs2710102 |
| ebi | rs2710102 |
| HLI | rs2710102 |
| Exac | rs2710102 |
| Gnomad | rs2710102 |
| Varsome | rs2710102 |
| LitVar | rs2710102 |
| Map | rs2710102 |
| PheGenI | rs2710102 |
| Biobank | rs2710102 |
| 1000 genomes | rs2710102 |
| hgdp | rs2710102 |
| ensembl | rs2710102 |
| geneview | rs2710102 |
| scholar | rs2710102 |
| rs2710102 | |
| pharmgkb | rs2710102 |
| gwascentral | rs2710102 |
| openSNP | rs2710102 |
| 23andMe | rs2710102 |
| SNPshot | rs2710102 |
| SNPdbe | rs2710102 |
| MSV3d | rs2710102 |
| GWAS Ctlg | rs2710102 |
| GMAF | 0.3999 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 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
]
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]
[PMID 18987363] 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)
[PMID 21193173] A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits.
[PMID 21310003] CNTNAP2 variants affect early language development in the general population.
[PMID 21987501] Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.
[PMID 23123147] CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population.
[PMID 23277129] Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.
| ClinVar | |
|---|---|
| Risk | Rs2710102(C;C) |
| Alt | Rs2710102(C;C) |
| Reference | Rs2710102(T;T) |
| Significance | Other |
| Disease | Autism 15 |
| Variation | info |
| Gene | CNTNAP2 |
| CLNDBN | Autism 15 |
| Reversed | 1 |
| HGVS | NC_000007.13:g.147574390A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005826.4, |
[PMID 26909962] Single nucleotide polymorphisms in the CNTNAP2 gene in Brazilian patients with autistic spectrum disorder.
[PMID 30586385] Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.
