AutismKB


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Detailed Information for rs3793243

Basic Information
SNP Name:rs3793243
SNP location:chr7:72759282-72759283
Related Gene:STX1A
Function:intron
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
5 0 0 0
Low Scale Association Studies
Family Based Association Studies: 5 results 
Transmission Disequilibrium Test (TDT)
Results #Informative Families Alele Name Transmitted (frequency) Non-Transmitted (frequency) P valueStudy Information
- T
T
- (0.52%)
- (0.48%)
- (0.48%)
- (0.52%)
0.311Nakamura,2010_1
  • Ancestral: Asian
  • Country: Japan
  • Diagnosis criteria: DSM-IV-TR, ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 126 Simplex Family: 126
  • Affected: All: 126 Women: 19 Age: 10.49 ± 4.75 Age Range: - IQ:82.06 ± 26.6 IQ Range:-
  • Unaffected: All:
OTHERS
Results Alele 1 Alele 2 Statistic Method P value Study Information
G Aothers 0.491Nakamura,2008_1
  • Ancestral: Caucasian
  • Country: AGRE
  • Diagnosis criteria: ADI-R, partly ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 249 Simplex Family: 14 Multiplex Family: 235
  • Affected: All: 249 Women: 0 Age: 9.65 ± 4.87 Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
G Aothers 0.053Nakamura,2008_2
  • Ancestral: Caucasian
  • Country: AGRE
  • Diagnosis criteria: ADI-R, partly ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 102
  • Affected: All: - Women: - Age: - Age Range: - IQ:>70 IQ Range:-
  • Unaffected: All:-
A Gothers 4.80E-01Malenfant,2011_1
  • Ancestral: Unknown
  • Country: Canada, USA
  • Diagnosis criteria: ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 189
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
A Gothers 6.90E-01Malenfant,2011_2
  • Ancestral: Unknown
  • Country: USA
  • Diagnosis criteria: ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 139
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
Case-Control Based Association Studies: 0 results 
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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