AutismKB


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Detailed Information for rs1042778

Basic Information
SNP Name:rs1042778
SNP location:chr3:8769544-8769545
Related Gene:OXTR
Function:untranslated-3
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
3 1 0 0
Low Scale Association Studies
Family Based Association Studies: 3 results 
Transmission Disequilibrium Test (TDT)
Results #Informative Families Alele Name Transmitted (frequency) Non-Transmitted (frequency) P valueStudy Information
- G
T
- ( - )
- ( - )
- ( - )
- ( - )
0.78Tansey,2010_1
  • Ancestral: Caucasian
  • Country: Ireland, Portugal, UK
  • Diagnosis criteria: DSM-IV, ADI-R, ADOS-G, VABS
  • Final diagnosis: ASD
  • Family : Total Family: 436 Simplex Family: 436
  • Affected: All: 436 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
57 G
T
82 ( - )
36 ( - )
36 ( - )
82 ( - )
0.46Liu,2010_1
  • Ancestral: Asian
  • Country: Japan
  • Diagnosis criteria: DSM-IV
  • Final diagnosis: ASD
  • Family : Total Family: 217
  • Affected: All: 223 Women: 34 Age: 18.35 ± 9.5 Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
OTHERS
Results Alele 1 Alele 2 Statistic Method P value Study Information
G Tothers 0.014Lerer,2008_1
  • Ancestral: Asian
  • Country: Israel
  • Diagnosis criteria: DSM-IV,ADI-R,ADOS-G,VABS
  • Final diagnosis: ASD
  • Family : Total Family: 133
  • Affected: All: 152 Women: 24 Age: - Age Range: (2.08-33.67) IQ:68.7 IQ Range:-
  • Unaffected: All:
Case-Control Based Association Studies: 1 results 
Results Alele Type Genotype P value Study Information
Allele 1 Allele 2 Allele 1/Allele 1 Allele 1/Allele 2 Allele 2/Allele 2

ASD
CTR
T
- (9.80%)
- (9.70%)
G
- (90.20%)
- (90.30%)
T/T
- ( - )
- ( - )
T/G
- ( - )
- ( - )
G/G
- ( - )
- ( - )
0.931Liu,2010_1
  • Ancestral: Asian
  • Country: Japan
  • Diagnosis criteria: DSM-IV
  • Final diagnosis: ASD
  • Case description: People:288 Women: 42
  • Age: 18.35 ± 9.5 (223), 25.20 ± 4.8 (65)
  • Control description: People: 440 Women: 168
  • Age: 40.9 ± 9.7
Genome-Wide Association Studies
Family Based Association Studies: 0 results 
Case-Control Based Association Studies: 0 results 

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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