Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5989681
rs5989681
ASMT
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
dbSNP: rs5989681
rs5989681
ASMT
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: rs769236847
rs769236847
ASNS ; CZ1P-ASNS
0.010 GeneticVariation BEFREE The present report describes two siblings from consanguineous parents with a homozygous Arg49Gln variant associated with a milder form of ASD that is characterized by later onset of symptoms. 29279279

2018
dbSNP: rs35424709
rs35424709
ATP13A4
0.010 GeneticVariation BEFREE Interestingly, over-expression of the sequence variant containing a substitution of aspartic acid for a glutamic acid (E646D), previously found in patients with autism spectrum disorder (ASD), did not increase the free cellular calcium likely due to the mutation. 19731010

2010
dbSNP: rs2278556
rs2278556
ATP2B2
0.010 GeneticVariation BEFREE Several markers were significantly associated with ASD in the exploratory sample, and the same risk alleles at single nucleotide polymorphisms rs3774180, rs2278556, and rs241509 were found associated with ASD in the replication sample after correction for multiple testing. 21757185

2011
dbSNP: rs241509
rs241509
ATP2B2
0.010 GeneticVariation BEFREE Several markers were significantly associated with ASD in the exploratory sample, and the same risk alleles at single nucleotide polymorphisms rs3774180, rs2278556, and rs241509 were found associated with ASD in the replication sample after correction for multiple testing. 21757185

2011
dbSNP: rs35678
rs35678
ATP2B2
0.010 GeneticVariation BEFREE The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. 22739633

2012
dbSNP: rs3774180
rs3774180
ATP2B2
0.010 GeneticVariation BEFREE Several markers were significantly associated with ASD in the exploratory sample, and the same risk alleles at single nucleotide polymorphisms rs3774180, rs2278556, and rs241509 were found associated with ASD in the replication sample after correction for multiple testing. 21757185

2011
dbSNP: rs10877969
rs10877969
AVPR1A
0.010 GeneticVariation BEFREE To determine the association between arginine vasopressin receptor 1A gene (AVPR1A) and autism spectrum disorders (ASDs), we examined 3 single nucleotide polymorphisms (SNPs), namely, rs7294536, rs3759292, and rs10877969, in the promoter region of AVPR1A by using a family-based association test (FBAT) in 151 Korean trios. 20546835

2010
dbSNP: rs3759292
rs3759292
AVPR1A
0.010 GeneticVariation BEFREE To determine the association between arginine vasopressin receptor 1A gene (AVPR1A) and autism spectrum disorders (ASDs), we examined 3 single nucleotide polymorphisms (SNPs), namely, rs7294536, rs3759292, and rs10877969, in the promoter region of AVPR1A by using a family-based association test (FBAT) in 151 Korean trios. 20546835

2010
dbSNP: rs7294536
rs7294536
AVPR1A
0.010 GeneticVariation BEFREE To determine the association between arginine vasopressin receptor 1A gene (AVPR1A) and autism spectrum disorders (ASDs), we examined 3 single nucleotide polymorphisms (SNPs), namely, rs7294536, rs3759292, and rs10877969, in the promoter region of AVPR1A by using a family-based association test (FBAT) in 151 Korean trios. 20546835

2010
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE Association of COMT (Val158Met) and BDNF (Val66Met) gene polymorphisms with anxiety, ADHD and tics in children with autism spectrum disorder. 19582565

2009
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE Neither BDNF Val66Met genotype nor plasma BDNF was significantly associated with the presence or severity of ASD or PTSD. 26999419

2016
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE These results suggested that rather than Val66Met polymorphism, BDNF was more possible to impact the pathogenesis of ASD. 26820673

2017
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE These results suggested that rather than Val66Met polymorphism, BDNF was more possible to impact the pathogenesis of ASD. 26820673

2017
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE Association of COMT (Val158Met) and BDNF (Val66Met) gene polymorphisms with anxiety, ADHD and tics in children with autism spectrum disorder. 19582565

2009
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.030 GeneticVariation BEFREE Neither BDNF Val66Met genotype nor plasma BDNF was significantly associated with the presence or severity of ASD or PTSD. 26999419

2016
dbSNP: rs893924483
rs893924483
BDNF ; BDNF-AS
0.010 GeneticVariation BEFREE Association of COMT (Val158Met) and BDNF (Val66Met) gene polymorphisms with anxiety, ADHD and tics in children with autism spectrum disorder. 19582565

2009
dbSNP: rs199473391
rs199473391
CACNA1C
0.010 GeneticVariation BEFREE A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel. 30172029

2019
dbSNP: rs1163276899
rs1163276899
CACNA1D
0.010 GeneticVariation BEFREE We also investigated if alternative splicing of Ca<sub>v</sub>1.3 affects the aberrant gating of the previously characterized APA mutation R990H and two mutations associated with autism spectrum disorder (A479G and G407R). 30465465

2018
dbSNP: rs201292141
rs201292141
CADM1
0.010 GeneticVariation BEFREE We previously found two missense mutations, H246N and Y251S, in the gene-encoding synaptic cell adhesion molecule-1 (CADM1) in ASD patients, including cleavage of the mutated CADM1 and its intracellular accumulation. 21364653

2010
dbSNP: rs1452075
rs1452075
CADPS
T 0.700 GeneticVariation GWASCAT Identification of common genetic risk variants for autism spectrum disorder. 30804558

2019
dbSNP: rs2241694
rs2241694
CAMK2A
0.010 GeneticVariation BEFREE At the phenotypic level, we nominally replicated associations of CAMK2A-rs2241694 with non-verbal communication in both combined LIQ and HIQ ASD cohorts. 29147782

2018
dbSNP: rs25925
rs25925
CAMK4
0.010 GeneticVariation BEFREE A subsequent meta-analysis including the two German samples, the "Strict/European" ASD subsample of the Autism Genome Project (1,466 families) and a French case/control (541/366) cohort showed again association of rs7170637-A (OR 0.85, 95 % CI 0.75-0.96; P = 0.007) and rs25925-G (OR 1.31, 95 % CI 1.04-1.64; P = 0.021) with ASD. 24442360

2014
dbSNP: rs750257282
rs750257282
CARS1 ; CARS1-AS1
0.010 GeneticVariation BEFREE Catechol-O-methyltransferase Val158Met polymorphism and hyperactivity symptoms in Egyptian children with autism spectrum disorder. 23643763

2013