Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2194079
rs2194079
0.010 GeneticVariation BEFREE Our results indicate that three single nucleotide polymorphisms (SNPs), rs4836316, rs2194079 and rs4836317 near the TSS are significantly associated with autism following Bonferroni correction (p = 0.0011, p = 0.0088, and p = 0.0023, respectively). 28536440

2017

dbSNP: rs2268498
rs2268498
0.010 GeneticVariation BEFREE These findings show for the first time that the rs2268498 SNP localized in the promoter flanking region of the OXTR gene is associated with autistic traits in different ethnic/cultural groups. 29027364

2017

dbSNP: rs3746599
rs3746599
0.010 GeneticVariation BEFREE Our results showed that rs3746599 was significantly associated with autism under allelic, additive and dominant models, respectively (χ<sup>2 </sup>=<sup> </sup>9.699, P = 0.0018; χ<sup>2 </sup>=<sup> </sup>16.224, P = 0.001; χ<sup>2 </sup>=<sup> </sup>7.198, P = 0.007). 27223645

2017

dbSNP: rs4836316
rs4836316
0.010 GeneticVariation BEFREE Our results indicate that three single nucleotide polymorphisms (SNPs), rs4836316, rs2194079 and rs4836317 near the TSS are significantly associated with autism following Bonferroni correction (p = 0.0011, p = 0.0088, and p = 0.0023, respectively). 28536440

2017

dbSNP: rs4836317
rs4836317
0.010 GeneticVariation BEFREE Our results indicate that three single nucleotide polymorphisms (SNPs), rs4836316, rs2194079 and rs4836317 near the TSS are significantly associated with autism following Bonferroni correction (p = 0.0011, p = 0.0088, and p = 0.0023, respectively). 28536440

2017

dbSNP: rs587777162
rs587777162
0.010 GeneticVariation BEFREE Children with mutations in this gene have developmental delay, epilepsy, intellectual disability and often autism; the most frequently occurring mutation is G70S. 28378778

2017

dbSNP: rs6280
rs6280
0.010 GeneticVariation BEFREE Considering the significance of dopaminergic system in psychological and neurological diseases and its association with autism, the hypothesis that genetic variant of dopamine receptor (DRD3), Ser9Gly (rs6280), may influence treatment of autism may be assumed. 29249220

2017

dbSNP: rs748128078
rs748128078
0.010 GeneticVariation BEFREE We analyzed several variants located in the GluN2B C terminus and found that three variants in patients with autism (S1415L) or schizophrenia (L1424F and S1452F) (S1413L, L1422F, and S1450F in rodents, respectively) displayed impaired binding to membrane-associated guanylate kinase (MAGUK) proteins. 28283559

2017

dbSNP: rs756790727
rs756790727
0.010 GeneticVariation BEFREE We analyzed several variants located in the GluN2B C terminus and found that three variants in patients with autism (S1415L) or schizophrenia (L1424F and S1452F) (S1413L, L1422F, and S1450F in rodents, respectively) displayed impaired binding to membrane-associated guanylate kinase (MAGUK) proteins. 28283559

2017

dbSNP: rs879254129
rs879254129
0.010 GeneticVariation BEFREE We analyzed several variants located in the GluN2B C terminus and found that three variants in patients with autism (S1415L) or schizophrenia (L1424F and S1452F) (S1413L, L1422F, and S1450F in rodents, respectively) displayed impaired binding to membrane-associated guanylate kinase (MAGUK) proteins. 28283559

2017

dbSNP: rs1053972
rs1053972
0.010 GeneticVariation BEFREE We tested the hypothesis that the PCSK6 VNTR polymorphism rs1053972 influences the expression of handedness and aspects of dimensional schizotypy and autism. 26921480

2016

dbSNP: rs1169089134
rs1169089134
0.010 GeneticVariation BEFREE An artificial neural network (ANN) model was developed from the data of 138 autistic and 138 nonautistic children using GCPII C1561T, SHMT1 C1420T, MTHFR C677T, MTR A2756G, and MTRR A66G as the predictors of autism risk. 27755291

2016

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: rs237889
rs237889
0.010 GeneticVariation BEFREE In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview - revised (ADI-R), with highly significant increases in social interaction deficits. 26788924

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: rs4291
rs4291
ACE
0.010 GeneticVariation BEFREE Considering the relation between the three polymorphisms of ACE (I/D, rs4343 and rs4291) with the level of ACE activity, we have investigated this association with autism, in a case-control study. 27082637

2016

dbSNP: rs4343
rs4343
ACE
0.010 GeneticVariation BEFREE Considering the relation between the three polymorphisms of ACE (I/D, rs4343 and rs4291) with the level of ACE activity, we have investigated this association with autism, in a case-control study. 27082637

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: rs6311
rs6311
0.010 GeneticVariation BEFREE Several studies, yielding so far inconclusive results, have attempted to associate autism with a functional SNP -1438 G/A (rs6311) in the HTR2A promoter region, while possible contribution of epigenetic mechanisms, such as DNA methylation, to HTR2A dysregulation in autism has not yet been investigated. 26149086

2016

dbSNP: rs6464926
rs6464926
0.010 GeneticVariation BEFREE A SNP (rs6464926) was significantly associated with autism even after Bonferroni correction (p=0.008). 26552012

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: rs740949
rs740949
0.010 GeneticVariation BEFREE Haplotype G-T (rs740949 and rs6464926) was a risk factor for autism (Z=2.655, p=0.008, Global p=0.024). 26552012

2016

dbSNP: rs779867
rs779867
0.010 GeneticVariation BEFREE Our study indicated that the rs779867 polymorphism is associated with ASD; thus, results of this study provide supportive evidence of association of the GRM7 gene with ASD.Autism Res 2016, 9: 1161-1168. 27312574

2016