rs7794745
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.1 | normal risk (for autism) |
| (A;T) | 2 | slightly increased risk for autism |
| (T;T) | 2 | slightly increased risk for autism |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 146792514 |
| Gene | CNTNAP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7794745 |
| dbSNP (classic) | rs7794745 |
| ClinGen | rs7794745 |
| ebi | rs7794745 |
| HLI | rs7794745 |
| Exac | rs7794745 |
| Gnomad | rs7794745 |
| Varsome | rs7794745 |
| LitVar | rs7794745 |
| Map | rs7794745 |
| PheGenI | rs7794745 |
| Biobank | rs7794745 |
| 1000 genomes | rs7794745 |
| hgdp | rs7794745 |
| ensembl | rs7794745 |
| geneview | rs7794745 |
| scholar | rs7794745 |
| rs7794745 | |
| pharmgkb | rs7794745 |
| gwascentral | rs7794745 |
| openSNP | rs7794745 |
| 23andMe | rs7794745 |
| SNPshot | rs7794745 |
| SNPdbe | rs7794745 |
| MSV3d | rs7794745 |
| GWAS Ctlg | rs7794745 |
| GMAF | 0.4766 |
| Max Magnitude | 2 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
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.[PMID 18179894
]
[PMID 20176116] Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2
[PMID 20414140] Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population
[PMID 19456320] A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
[PMID 20446882] 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?
[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 21987501] Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.
[PMID 23115634] CNTNAP2 and Language Processing in Healthy Individuals as Measured with ERPs
[PMID 23277129] Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.
| ClinVar | |
|---|---|
| Risk | Rs7794745(T;T) |
| Alt | Rs7794745(T;T) |
| Reference | Rs7794745(A;A) |
| Significance | Other |
| Disease | Autism 15 |
| Variation | info |
| Gene | CNTNAP2 |
| CLNDBN | Autism 15 |
| Reversed | 0 |
| HGVS | NC_000007.13:g.146489606A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005827.3, |
[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.
