rs1064794254
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.
|
22609145 |
2012 |
rs1064794254
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
|
19238151 |
2010 |
rs1064794254
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
|
17704778 |
2007 |
rs10732392
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs (rs10732392 and rs12336217) showed moderate association with autism with p values 0.018 and 0.022 respectively in transmission disequilibrium test.
|
21901133 |
2011 |
rs10749886
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Individual common variants exert weak effects on the risk for autism spectrum disorders.
|
22843504 |
2012 |
rs1085307845
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1085307993
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs10858047
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs10877969
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results demonstrated a statistically significant association between autism and SNPs (additive model: rs7294536, chi(2)=9.328, df=2, P=0.002; rs10877969, chi(2)=11.529, df=2, P<0.001) as well as between autism and haplotype analysis (additive model: chi(2)=14.122, df=3, P=0.003).
|
20546835 |
2010 |
rs10904487
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Individual common variants exert weak effects on the risk for autism spectrum disorders.
|
22843504 |
2012 |
rs10942147
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
|
19404256 |
2009 |
rs10951154
|
|
|
0.040 |
GeneticVariation |
BEFREE |
More direct tests, comparing genotype frequencies between probands and controls and tracking transmission of the A versus G alleles to affected offspring, did not support the contention that allele status for the HOXA1 A218G polymorphism influences one's susceptibility to autism.
|
12908836 |
2003 |
rs10951154
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.
|
14960295 |
2004 |
rs10951154
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Therefore, although we cannot exclude the possibility that the samples in the two studies are intrinsically different, our data from our sample argue against a major role for HOXA1 (His)73(Arg) in liability to autism.
|
12210285 |
2002 |
rs10951154
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The HOXA1 A218G polymorphism has been found to be associated with autism and larger head circumference in autistic patients.
|
19018953 |
2009 |
rs11080149
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We previously described an association between a subgroup of French autistic patients and an allele of a non-synonymous single nucleotide polymorphism (nsSNP: OMGP62 G>A or rs11080149) in the gene coding for the oligodendrocyte and myelin glycoprotein (OMG), located at 7Mb from the marker D17S250, linked to autism in two independent genome scan studies.
|
17897745 |
2007 |
rs11102800
|
|
C |
0.800 |
GeneticVariation |
GWASDB |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11102800
|
|
C |
0.800 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11102807
|
|
A |
0.800 |
GeneticVariation |
GWASDB |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11102807
|
|
A |
0.800 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11118968
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Individual common variants exert weak effects on the risk for autism spectrum disorders.
|
22843504 |
2012 |
rs11179000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In particular, we failed to replicate the association between autism and variants of the TPH2 gene, rs4341581 (TRANSMIT P = 1; PDT P = 0.323; FBAT P = 0.446) and rs11179000 (TRANSMIT P = 0.174; PDT P = 0.293; FBAT P = 0.374).
|
16958027 |
2006 |
rs111902263
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We carried out a genetic analysis of the coding sequence of RFN135 in a French cohort of patients with autism and observed a significantly increased frequency of genotypes carrying the rare allele of the rs111902263 (p.R115K) missense variant in patients (P=0.0019, odds ratio: 4.23, 95% confidence interval: 1.87-9.57).
|
26368817 |
2015 |
rs111902263
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We carried out a genetic analysis of the coding sequence of RFN135 in a French cohort of patients with autism and observed a significantly increased frequency of genotypes carrying the rare allele of the rs111902263 (p.R115K) missense variant in patients (P=0.0019, odds ratio: 4.23, 95% confidence interval: 1.87-9.57).
|
26368817 |
2015 |
rs1119032
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotypes involving rs1119032 showed very strong associations with autism, withstanding multiple testing corrections.
|
23031252 |
2013 |