|
rs10497655
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This result indicates that the rs10497655 allelic expression difference of ZNF804A during the critical period of brain development may have an effect on postnatal phenotypes of ASD.
|
30670685 |
2019 |
|
rs34714481
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed the relationship of two polymorphisms (rs10497655 and rs34714481) in ZNF804A promoter region with ASD in 854 cases versus 926 controls.
|
30670685 |
2019 |
|
rs6735330
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In XPO1, rs6735330 was associated with autism in all four cohorts (P<0.05), being significant in ASD-CARC cohorts (P-value following false discovery rate correction for multiple testing (P(FDR))=1.29 × 10(-5)), the AGRE cohort (P(FDR)=0.0011) and the combined families (P(FDR)=2.34 × 10(-9)).
|
21750575 |
2011 |
|
rs2535443
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We evaluated the male-specific genetic effects of ASD in 374 multiplex families of European ancestry in which all affected were male (male-only; MO) and identified a novel genome-wide significant association in the pseudoautosomal boundary on chromosome Xp22.33/Yp11.31 in the MO families of predominantly paternal origin (rs2535443, p = 3.8 × 10(-8) ).
|
24132906 |
2013 |
|
rs2896218
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A haplotype of WNT2 (rs2896218-rs6950765: G-G) is significantly associated with ASDs in our trios samples, this finding warrants further validation by different sample and confirmation by functional study.
|
21575668 |
2011 |
|
rs6950765
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A haplotype of WNT2 (rs2896218-rs6950765: G-G) is significantly associated with ASDs in our trios samples, this finding warrants further validation by different sample and confirmation by functional study.
|
21575668 |
2011 |
|
rs1033810883
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also found a missense variant in WNT1 (S88R) that was overrepresented in the ASD sample (8 A/T in 267 ASD (minor allele frequency (MAF)=1.69%) vs 1 A/T in 377 controls (MAF=0.13%), OR=13.0, Fisher's exact test, P=0.0048; OR=8.2 and P=0.053 after correction for population stratification).
|
24002087 |
2013 |
|
rs61758378
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also found a missense variant in WNT1 (S88R) that was overrepresented in the ASD sample (8 A/T in 267 ASD (minor allele frequency (MAF)=1.69%) vs 1 A/T in 377 controls (MAF=0.13%), OR=13.0, Fisher's exact test, P=0.0048; OR=8.2 and P=0.053 after correction for population stratification).
|
24002087 |
2013 |
|
rs1544410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This case-control study aimed to determine the association of single-nucleotide polymorphisms (SNPs) rs731276 (TaqI), rs1568820 (Cdx2), rs1544410 (BsmI), and rs2228570 (FokI) in the vitamin D receptor (VDR) gene with susceptibility of childhood ASD and severity of the disease.
|
29581796 |
2018 |
|
rs2228570
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This case-control study aimed to determine the association of single-nucleotide polymorphisms (SNPs) rs731276 (TaqI), rs1568820 (Cdx2), rs1544410 (BsmI), and rs2228570 (FokI) in the vitamin D receptor (VDR) gene with susceptibility of childhood ASD and severity of the disease.
|
29581796 |
2018 |
|
rs1565532385
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1567533189
|
|
G |
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 |
|
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 |
|
rs139896303
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conducted a detailed association analysis between the tryptophan hydroxylase 2 gene and autism spectrum disorders in a Japanese population using 19 markers, including tagging single nucleotide polymorphisms and a novel missense variation, p.R225Q, identified through exon resequencing.
|
22361444 |
2012 |
|
rs1843809
|
|
|
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 |
|
rs2129575
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a significant association at the rs2129575 with ASD susceptibility (corrected p=0.006).
|
22698779 |
2012 |
|
rs886039770
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1800692
|
|
|
0.010 |
GeneticVariation |
BEFREE |
T-C polymorphism (rs1800692) was the only variation in the intron 4 of TNFRSF1A gene that we observed at the ASD patients.
|
23269568 |
2013 |
|
rs1229030855
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Six missense changes were detected only in individuals with ASD with sleep disturbance: p.F498S in TIMELESS, p.S20R in NR1D1, p.R493C in PER3, p.H542R in CLOCK, p.L473S in ARNTL2, and p.A325V in MTNR1B.
|
25957987 |
2016 |
|
rs12037377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a rare homozygous c.790C>T (His264Tyr) variation in TFB2M gene in two Korean siblings with ASD by whole-exome sequencing.
|
30414672 |
2018 |
|
rs1801198
|
|
|
0.020 |
GeneticVariation |
BEFREE |
ASD probands showed a higher frequency of rs2298444 'A' allele (P = 0.01) and genotypes with 'A' allele (P = 0.03) when compared with the controls. rs1801198 'C' allele and 'CG' genotype also showed higher occurrence in the probands (P = 0.009 and 0.005, respectively).
|
30676283 |
2019 |
|
rs1801198
|
|
|
0.020 |
GeneticVariation |
BEFREE |
MATERIAL AND METHODS Genotypes of transcobalamin 2 (TCN2) rs1801198, methionine synthase (MTR) rs1805087, methionine synthase reductase (MTRR) rs1801394, and methylene tetrahydrofolate reductase (MTHFR) rs1801133 were examined in 201 children with ASD and 200 healthy controls from the Han Chinese population.
|
29348398 |
2018 |
|
rs141441277
|
|
|
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 |
|
rs193024911
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we show that nonsense (A94fs199X) and missense (Y236S and G464R) mutations in SYN2 are associated with ASD in humans.The phenotype is apparent in males.
|
23956174 |
2014 |
|
rs762457833
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we show that nonsense (A94fs199X) and missense (Y236S and G464R) mutations in SYN2 are associated with ASD in humans.The phenotype is apparent in males.
|
23956174 |
2014 |