Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11787216
rs11787216
T 0.700 GeneticVariation GWASCAT Identification of common genetic risk variants for autism spectrum disorder. 30804558

2019

dbSNP: rs13294439
rs13294439
A 0.700 GeneticVariation GWASCAT Identification of common genetic risk variants for autism spectrum disorder. 30804558

2019

dbSNP: rs2388334
rs2388334
A 0.700 GeneticVariation GWASCAT Identification of common genetic risk variants for autism spectrum disorder. 30804558

2019

dbSNP: rs4307059
rs4307059
0.030 GeneticVariation BEFREE Individuals who carry the ASD-associated rs4307059 T allele showed increased expression of MSNP1AS. 22491950

2012

dbSNP: rs4307059
rs4307059
0.030 GeneticVariation BEFREE The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. 22739633

2012

dbSNP: rs4307059
rs4307059
0.030 GeneticVariation BEFREE Our results suggest that common variation at 5p14.1 is associated with social communication spectrum phenotypes in the general population and support the role of rs4307059 as a quantitative trait locus for autism spectrum disorder. 20634369

2010

dbSNP: rs12826786
rs12826786
0.010 GeneticVariation BEFREE Based on the results of the current investigation, the rs12826786 can be regarded as a risk locus for ASD in Iranian population. 31654274

2020

dbSNP: rs13000344
rs13000344
0.010 GeneticVariation BEFREE Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P(FDR)=8.65 × 10(-7) and 6.07 × 10(5), respectively), AGRE cohort (P(FDR)=0.0034 and 0.015, respectively) and the combined families (P(FDR)=2.34 × 10(-9) and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. 21750575

2011

dbSNP: rs194085
rs194085
0.010 GeneticVariation BEFREE Family-based association testing and haplotype analysis revealed a statistically significant association between rs194085 and multiple sociality traits with Korean ASDs in the dominant model (p<0.001, corrected p=0.035). 29209394

2017

dbSNP: rs34808376
rs34808376
0.010 GeneticVariation BEFREE Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach. 20050924

2010

dbSNP: rs35753505
rs35753505
0.010 GeneticVariation BEFREE To determine the genetic association between qualitative and quantitative traits of autism spectrum disorder (ASD) and neuregulin 1 (NRG1)-a schizophrenia candidate gene-we examined six single nucleotide polymorphisms (SNPs) in NRG1 using a family-based association test (FBAT) in Korean families with ASD. rs35753505 and rs6994992 SNPs in NRG1 revealed a statistically significant family-based association with three quantitative traits for sociality. 25858800

2015

dbSNP: rs6150410
rs6150410
0.010 GeneticVariation BEFREE Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach. 20050924

2010

dbSNP: rs379863
rs379863
ADA
0.010 GeneticVariation BEFREE It was expected that risk-allele-carriers of the oxytocin-receptor-gene-polymorphism (rs53576) and of CD38 (rs379863) responded similar to upright and inverted faces as persons with ASD. 27015428

2016

dbSNP: rs73598374
rs73598374
ADA
0.010 GeneticVariation BEFREE The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders. 17340203

2008

dbSNP: rs6551665
rs6551665
0.010 GeneticVariation BEFREE We tested the association of an ADGRL3 variant (rs6551665</span>) with both early-onset ADHD and ASD susceptibility. 30652248

2019

dbSNP: rs2236624
rs2236624
0.010 GeneticVariation BEFREE Nominal association with the disorder was observed for rs2236624-CC, and phenotypic variability in ASD symptoms was influenced by rs3761422, rs5751876 and rs35320474. 19565319

2010

dbSNP: rs765619798
rs765619798
0.010 GeneticVariation BEFREE We detected a statistically significant association between the variant Ala55Thr in CX3CR1 with SCZ and ASD phenotypes (odds ratio=8.3, P=0.020). 28763059

2017

dbSNP: rs370956755
rs370956755
0.010 GeneticVariation BEFREE We detected a statistically significant association between the variant Ala55Thr in CX3CR1 with SCZ and ASD phenotypes (odds ratio=8.3, P=0.020). 28763059

2017

dbSNP: rs1800497
rs1800497
0.010 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: rs766483232
rs766483232
0.010 GeneticVariation BEFREE Here, we examined the synaptic effects of rat Mint2 N723S mutation (equivalent to autism-linked human MINT2 N722S mutation) which targets a conserved asparagine residue in the second PDZ domain of Mint2 that binds to neurexin-1α (Nrxn1α), a presynaptic cell-adhesion protein implicated in ASDs. 30988517

2019

dbSNP: rs766483232
rs766483232
0.010 GeneticVariation BEFREE Here, we examined the synaptic effects of rat Mint2 N723S mutation (equivalent to autism-linked human MINT2 N722S mutation) which targets a conserved asparagine residue in the second PDZ domain of Mint2 that binds to neurexin-1α (Nrxn1α), a presynaptic cell-adhesion protein implicated in ASDs. 30988517

2019

dbSNP: rs1804197
rs1804197
APC
0.010 GeneticVariation BEFREE We serendipitously identified a single nucleotide polymorphism (SNP), 8636C>A (rs1804197) in the 3'-untranslated region of the adenomatous polyposis coli (APC) gene to be associated with autism spectrum disorder (ASD). 17221838

2007

dbSNP: rs465899
rs465899
APC
0.010 GeneticVariation BEFREE In order to gain further evidence for the association between the APC locus and ASD, we genotyped four additional adjacent common SNPs (rs2229992, rs42427, rs459552, and rs465899) in the coding regions within the APC gene in a set of Swedish ASDs and controls. 17221838

2007

dbSNP: rs4446909
rs4446909
0.020 GeneticVariation BEFREE Two polymorphisms located in the promoter (rs4446909 and rs5989681) were more frequent in ASD compared to controls (P=0.0006) and were associated with a dramatic decrease in ASMT transcripts in blood cell lines (P=2 x 10(-10)). 17505466

2008

dbSNP: rs4446909
rs4446909
0.020 GeneticVariation BEFREE A previous study reported an association between ASD and single nucleotide polymorphisms (SNPs) rs4446909 and rs5989681 located in the promoter of ASMT. 23349736

2013