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CNTNAP2

From SNPedia
is agene
is mentioned by
EntrezGene26047
PheGenI26047
VariationViewer26047
ClinVarCNTNAP2
GeneCardsCNTNAP2
dbSNP26047
DiseasesCNTNAP2
SADR26047
HugeNav26047
wikipediaCNTNAP2
googleCNTNAP2
gopubmedCNTNAP2
EVSCNTNAP2
HEFalMpCNTNAP2
MyGene2CNTNAP2
23andMeCNTNAP2
# SNPs44
 Max MagnitudeChromosome positionSummary
rs102448370146,778,222
rs102462560147,857,715
rs102737750147,200,311
rs105001710147,183,313
rs10575205490147,639,258
rs10575207430147,128,829
rs10647960710147,395,761
rs10853078380148,267,031
rs1219084450148,147,542
rs13580750146,438,846
rs1490327710147,300,272
rs1504470750146,115,955
rs171703560147,190,776
rs17181010146,425,696
rs172362392147,885,213
rs19228920147,879,319
rs2010764280147,639,254
rs21078560147,491,593
rs21413880147,492,648
rs21900040147,571,368
rs22146810148,005,600
rs25389580147,918,548
rs25389760147,888,727
rs25389910147,882,527
rs27082400147,880,445
rs27101022147,877,298
rs27101170147,904,680
rs347120240146,116,001
rs3716422220148,217,323
rs3981242680147,903,619
rs44315230147,900,074
rs45497020148,203,924
rs64648160147,529,799
rs7308802750148,383,882
rs7308802760147,485,934
rs7525508490147,300,239
rs7591780147,878,020
rs77947452146,792,514
rs77991810146,351,738
rs7960523740147,132,507
rs7960523880147,121,075
rs8025680146,262,151
rs8517151.2147,829,814
rs8860419910147,562,179


CNTNAP2 is a gene on chromosome 7 encoding the contactin-associated protein-like 2, a member of the neurexin superfamily. SNPs in CNTNAP2 have been associated with increased susceptibility to autism spectrum disorders:

  • rs7794745, a common polymorphism
  • rs2710102, another common SNP, linked to delayed onset of speech
  • Several rare variants found primarily in families with only affected males [PMID 18179895]