|
rs998675361
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs966805126
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we generated the knock-in P89L mice, and we show that the P89L</span> heterozygote mice display abnormal social behavior, a core feature of ASD.
|
28841651 |
2017 |
|
rs963968092
|
|
|
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 |
|
rs9616915
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic analysis of heterozygous model, dominant model and additive model showed an association of the C allele of the rs9616915 with ASD (e.g., additive model, OR 0.582, 95% CI 0.359-0.942, P = 0.028).
|
24398551 |
2014 |
|
rs9468304
|
|
|
0.010 |
GeneticVariation |
BEFREE |
FADS2 rs526126 and ELOVL2 rs10498676 were associated with decreased ASD risk in recessive model (OR = 0.07, 95% CI = 0.02-0.22, p<sub>FDR</sub> < 0.01; OR = 0.56, 95% CI = 0.35-0.89, p<sub>FDR</sub> = 0.042), while ELOVL2 rs17606561, rs3756963, and rs9468304 were associated with increased ASD risk in overdominant model (OR = 1.63, 95% CI = 1.12-2.36, p<sub>FDR</sub> = 0.036; OR = 1.64, 95% CI = 1.14-2.37, p<sub>FDR</sub> = 0.039; OR = 1.75, 95% CI = 1.22-2.50, p<sub>FDR</sub> = 0.017).
|
30180836 |
2018 |
|
rs893924483
|
|
|
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 |
|
rs888864913
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs886039770
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs886037776
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.
|
27651234 |
2016 |
|
rs878853161
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs878853147
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated here the pathogenicity of additional missense variants identified in two multiplex families with intellectual disability (ID) and ASD: c.1789C>T, p.Arg597Trp, previously reported by our group (Redin et al.
|
31184401 |
2019 |
|
rs870142
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The allele A of rs870142, the allele A of rs16835979 and the allele A of rs6824295 were significantly associated with an increased risk of ASD.
|
26283177 |
2016 |
|
rs866632178
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs863225082
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs854560
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, both the bioavailability and the catalytic activity of PON1 are impaired in ASD, despite no association with the Q192R and L55M polymorphisms in the PON1 gene and a normal distribution of the PON1 phenotype.
|
18624774 |
2010 |
|
rs8068149
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found preferential transmission of the A allele of rs8068149 (P = 0.039) and G allele of rs1060826 (P = 0.035) of NOS-IIA in ASD and the haplotype analysis revealed that the two haplotypes had significant associations (P = 0.014 and 0.031, respectively).
|
18563708 |
2009 |
|
rs797045050
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified by exome sequencing a de novo dominant missense variant, (c.38G>A, p.R13H), within an ATP binding site of the kinesin motor domain in a patient manifesting a complex phenotype characterized by autism spectrum disorder (ASD), spastic paraplegia and axonal neuropathy.
|
28834584 |
2017 |
|
rs79667838
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results of this study led to the identification of four novel point mutations, two of which, that is, C6S and L181F, involve amino acid changes identified in two patients with ASD and Rett syndrome, respectively.
|
18393381 |
2008 |
|
rs796053483
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
|
30763456 |
2019 |
|
rs796052733
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
|
30763456 |
2019 |
|
rs782521991
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two non-synonymous mutations of RPL10, L206M and H213Q, were identified in four boys with ASD.
|
19166581 |
2009 |
|
rs779867
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Further haplotype analysis showed that rs6782011/rs779867 (T-C) was statistically significantly related to ASDs in both the AS</span>D vs. combined controls and ASD vs. normal controls groups (bootstrap P value=0.013, permutation P value=0.013 for the former group and bootstrap P value=0.002, permutation P value=0.020 for the latter).
|
23201551 |
2013 |
|
rs779867
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Haplotype analysis exhibited significant association of two estimated block of rs6782011/rs779867 in ASD patients versus control group.
|
27312574 |
2016 |
|
rs779545541
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a 7-year-old male with high functioning autism spectrum disorder (ASD) and maternally-inherited rare missense variant of Synaptotagmin-like protein 4 (<i>SYTL4)</i> gene (Xq22.1; c.835C>T; p.Arg279Cys) and an unknown missense variant of Transmembrane protein 187 (<i>TMEM187</i>) gene (Xq28; c.708G>T; p. Gln236His).
|
31323913 |
2019 |
|
rs7794745
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Five single nucleotide polymorphisms in CNTNAP2 (including rs7794745 and rs2710102, previously associated with ASDs) were genotyped.
|
21193173 |
2011 |