Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751945904
rs751945904
0.020 GeneticVariation BEFREE Human neurons carrying the syndromic autism mutation NLGN4-R704C also formed more excitatory synapses but with increased functional synaptic transmission due to a postsynaptic mechanism, while genetic loss of NLGN4 did not significantly affect synapses in the human neurons analyzed. 31257103

2019

dbSNP: rs751945904
rs751945904
0.020 GeneticVariation BEFREE Here, we analysed the effect of a single amino-acid substitution (R704C) that targets a conserved arginine residue in the cytoplasmic sequence of all neuroligins, and that was associated with autism in neuroligin-4. 21642956

2011

dbSNP: rs1882260
rs1882260
0.010 GeneticVariation BEFREE According to both the European and the Italian control groups, a 6-marker haplotype on <i>NLGN4X</i> (rs6638575(G), rs3810688(T), rs3810687(G), rs3810686(C), rs5916269(G), rs1882260(T)) was associated with autism (odd ratio = 3.58, <i>p</i>-value = 2.58 × 10<sup>-6</sup> for the European controls; odds ratio = 2.42, <i>p</i>-value = 6.33 × 10<sup>-3</sup> for the Italian controls). 27782075

2016

dbSNP: rs3810686
rs3810686
0.010 GeneticVariation BEFREE According to both the European and the Italian control groups, a 6-marker haplotype on <i>NLGN4X</i> (rs6638575(G), rs3810688(T), rs3810687(G), rs3810686(C), rs5916269(G), rs1882260(T)) was associated with autism (odd ratio = 3.58, <i>p</i>-value = 2.58 × 10<sup>-6</sup> for the European controls; odds ratio = 2.42, <i>p</i>-value = 6.33 × 10<sup>-3</sup> for the Italian controls). 27782075

2016

dbSNP: rs3810687
rs3810687
0.010 GeneticVariation BEFREE According to both the European and the Italian control groups, a 6-marker haplotype on <i>NLGN4X</i> (rs6638575(G), rs3810688(T), rs3810687(G), rs3810686(C), rs5916269(G), rs1882260(T)) was associated with autism (odd ratio = 3.58, <i>p</i>-value = 2.58 × 10<sup>-6</sup> for the European controls; odds ratio = 2.42, <i>p</i>-value = 6.33 × 10<sup>-3</sup> for the Italian controls). 27782075

2016

dbSNP: rs3810688
rs3810688
0.010 GeneticVariation BEFREE According to both the European and the Italian control groups, a 6-marker haplotype on <i>NLGN4X</i> (rs6638575(G), rs3810688(T), rs3810687(G), rs3810686(C), rs5916269(G), rs1882260(T)) was associated with autism (odd ratio = 3.58, <i>p</i>-value = 2.58 × 10<sup>-6</sup> for the European controls; odds ratio = 2.42, <i>p</i>-value = 6.33 × 10<sup>-3</sup> for the Italian controls). 27782075

2016

dbSNP: rs5916269
rs5916269
0.010 GeneticVariation BEFREE According to both the European and the Italian control groups, a 6-marker haplotype on <i>NLGN4X</i> (rs6638575(G), rs3810688(T), rs3810687(G), rs3810686(C), rs5916269(G), rs1882260(T)) was associated with autism (odd ratio = 3.58, <i>p</i>-value = 2.58 × 10<sup>-6</sup> for the European controls; odds ratio = 2.42, <i>p</i>-value = 6.33 × 10<sup>-3</sup> for the Italian controls). 27782075

2016

dbSNP: rs6638575
rs6638575
0.010 GeneticVariation BEFREE According to both the European and the Italian control groups, a 6-marker haplotype on <i>NLGN4X</i> (rs6638575(G), rs3810688(T), rs3810687(G), rs3810686(C), rs5916269(G), rs1882260(T)) was associated with autism (odd ratio = 3.58, <i>p</i>-value = 2.58 × 10<sup>-6</sup> for the European controls; odds ratio = 2.42, <i>p</i>-value = 6.33 × 10<sup>-3</sup> for the Italian controls). 27782075

2016

dbSNP: rs3747333
rs3747333
0.010 GeneticVariation BEFREE By case-control analysis, we identified the common SNPs (rs3747333 and rs3747334) in the NLGN4X gene significantly associated with risk for autism [p = 5.09E-005; OR 4.685 (95% CI 2.073-10.592)]. 24570023

2014

dbSNP: rs3747334
rs3747334
0.010 GeneticVariation BEFREE By case-control analysis, we identified the common SNPs (rs3747333 and rs3747334) in the NLGN4X gene significantly associated with risk for autism [p = 5.09E-005; OR 4.685 (95% CI 2.073-10.592)]. 24570023

2014

dbSNP: rs144093574
rs144093574
0.010 GeneticVariation BEFREE In the preliminary study of specific exons of NLGN3 and NLGN4 genes, we identified the p.K378R substitution (c.1597 A > G) in exon 5 of the NLGN4 gene in a patient who was found to have mild autism and normal IQ at 3 years of age. 19645625

2009

dbSNP: rs2290488
rs2290488
0.010 GeneticVariation BEFREE A family-based association study for rs2290488 in 101 trios did not reveal association of this polymorphism with autistic disorders on high functioning level. 18189281

2008