Rs7794745
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7794745 |
| PheGenI | rs7794745 |
| nextbio | rs7794745 |
| hapmap | rs7794745 |
| 1000 genomes | rs7794745 |
| hgdp | rs7794745 |
| ensembl | rs7794745 |
| gopubmed | rs7794745 |
| geneview | rs7794745 |
| scholar | rs7794745 |
| rs7794745 | |
| pharmgkb | rs7794745 |
| gwascentral | rs7794745 |
| openSNP | rs7794745 |
| 23andMe | rs7794745 |
| 23andMe all | rs7794745 |
| SNP Nexus | |
| SNPshot | rs7794745 |
| SNPdbe | rs7794745 |
| MSV3d | rs7794745 |
| Gene | CNTNAP2 |
| Chromosome | 7 |
| Orientation | plus |
| GMAF | 0.4766 |
| Position | 146489606 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal risk |
| (A;T) | slightly increased risk for autism | |
| (T;T) | slightly increased risk for autism |
| ? | (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.
| GET Evidence | |
|---|---|
| rs7794745 | |
| aa_change | |
| aa_change_short | |
| impact | pharmacogenetic |
| qualified_impact | Insufficiently evaluated pharmacogenetic |
| overall_frequency | 0.5 |
| summary | |
[PMID 23115634] CNTNAP2 and Language Processing in Healthy Individuals as Measured with ERPs
