Rs2710102

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Orientationminus
Geno Mag Summary
(C;C) higher risk of speech development delay and/or impairment
(C;T) None
(T;T) 2 Delayed childhood speech.
ReferenceGRCh38 38.1/141
Chromosome7
Position147877298
GeneCNTNAP2
is asnp
is mentioned by
dbSNPrs2710102
Exacrs2710102
PheGenIrs2710102
nextbiors2710102
hapmaprs2710102
1000 genomesrs2710102
hgdprs2710102
ensemblrs2710102
gopubmedrs2710102
geneviewrs2710102
scholarrs2710102
googlers2710102
pharmgkbrs2710102
gwascentralrs2710102
openSNPrs2710102
23andMers2710102
23andMe allrs2710102
SNP Nexus

SNPshotrs2710102
SNPdbers2710102
MSV3drs2710102
GMAF0.3999
? (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 18179893OA-icon.png]

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 18179893OA-icon.png]

[PMID 18987363OA-icon.png] 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)

Neighborrs759178
Distance722
OMIM604569
DescCONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2
Variant
Relatedalso


OMIM604569
Desc
Variant0002
Relatedalso
[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 21310003OA-icon.png] 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.


GET Evidence
rs2710102
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.640625
summary



[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.