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Rs7794745

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Orientationplus
is asnp
is mentioned by
dbSNPrs7794745
PheGenIrs7794745
nextbiors7794745
hapmaprs7794745
1000 genomesrs7794745
hgdprs7794745
ensemblrs7794745
gopubmedrs7794745
geneviewrs7794745
scholarrs7794745
googlers7794745
pharmgkbrs7794745
gwascentralrs7794745
openSNPrs7794745
23andMers7794745
23andMe allrs7794745
SNP Nexus

SNPshotrs7794745
SNPdbers7794745
MSV3drs7794745
GeneCNTNAP2
Chromosome7
Orientationplus
GMAF0.4766
Position146792514
ReferenceGRCh38 38.1/141
Max Magnitude2
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
? (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 18179894OA-icon.png]

Related article

OMIM604569
DescCONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2
Variant
Relatedalso
[PMID 20176116OA-icon.png] 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

OMIM604569
Desc
Variant0003
Relatedalso
[PMID 19456320OA-icon.png] 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 21193173OA-icon.png] 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 23115634OA-icon.png] 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.