Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1396313317
rs1396313317
Entrez Id: 26047;107986721
Gene Symbol: CNTNAP2;LOC107986721
CNTNAP2;LOC107986721
CUI: C1510586
Disease:
Autism Spectrum Disorders
C 0.700 GeneticVariation CLINVAR Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 30763456 2019
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.040 GeneticVariation BEFREE In the updated meta-analysis, the association between the two frequently reported SNPs (rs2710102 and rs7794745) in CNTNAP2 and the risk of ASD was explored. 30681286 2019
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.040 GeneticVariation BEFREE The results revealed higher frequency distributions statistically significant (P = 0.034) of the homozygous SNP rs7794745 (presumed risk genotype) in ASD patients as compared with control subjects. 26909962 2016
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.040 GeneticVariation BEFREE Five single nucleotide polymorphisms in CNTNAP2 (including rs7794745 and rs2710102, previously associated with ASDs) were genotyped. 21193173 2011
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.040 GeneticVariation BEFREE A total of 110 adult patients with ASD (n=61) or ADHD (n=49) with or without a lifetime history of SUD participated in a study in which we genotyped polymorphisms in five known candidate genes for (one of) the disorders, i.e. the 5HTTLPR in SLC6A4/5-HTT, rs1800497 (TaqIA C>T) in DRD2, rs7794745 in CNTNAP2, rs1843809 in TPH2, and rs6565113 in CDH13. 20446882 2010
dbSNP: rs2710102
rs2710102
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.030 GeneticVariation BEFREE In the updated meta-analysis, the association between the two frequently reported SNPs (rs2710102 and rs7794745) in CNTNAP2 and the risk of ASD was explored. 30681286 2019
dbSNP: rs2710102
rs2710102
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.030 GeneticVariation BEFREE We analyzed the SNPs (rs7794745 and rs2710102) in the CNTNAP2 gene of 210 individuals with idiopathic ASD and 200 non-autistic individuals by polymerase chain reaction-restriction fragment length polymorphism. 26909962 2016
dbSNP: rs2710102
rs2710102
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.030 GeneticVariation BEFREE Although association was found with rs2710102, the risk allele (a) for the traits studied here is the nonrisk allele for ASD and specific language impairment. 21193173 2011
dbSNP: rs121908445
rs121908445
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE Then, we show that the two ASD variants I869T and G731S, which present impaired binding to Contactin2/TAG-1, do not rescue axonal growth deficits. 29788201 2018
dbSNP: rs369867547
rs369867547
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE Then, we show that the two ASD variants I869T and G731S, which present impaired binding to Contactin2/TAG-1, do not rescue axonal growth deficits. 29788201 2018