Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.040 GeneticVariation BEFREE The results of this study showed that there is a significant association between rs7794745 CNTNAP2 gene polymorphism and autism in the studied population. 28284582 2017
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.040 GeneticVariation BEFREE One of the most striking interspecies differences with 28% methylation in human and 59% in chimpanzee cortex (by bisulfite pyrosequencing) lies in a region 300 bp upstream of human SNP rs7794745 which has been associated with autism and parent-of-origin effects. 24434791 2014
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.040 GeneticVariation BEFREE Furthermore, we failed to replicate in our sample a previous association finding of two single nucleotide polymorphisms (rs2710102 and rs7794745) in the CNTNAP2 gene with autism. 23277129 2013
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.040 GeneticVariation BEFREE In the current study we investigated the functional effects of variants of CNTNAP2 associated with autism and language impairment (rs7794745 and rs2710102; presumed risk alleles T and C, respectively) in healthy individuals using functional magnetic resonance imaging (fMRI) during performance of a language task (n = 66). 21987501 2011