AutismKB


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Detailed Information for rs890317

Basic Information
SNP Name:rs890317
SNP location:chr15:24473293-24473294
Related Gene:GABRB3
Function:intron
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
- A
C
58 ( - )
56 ( - )
56 ( - )
58 ( - )
>0.05Kim,2006_1
  • Ancestral: Asian
  • Country: Korea
  • Diagnosis criteria: DSM-IV, K-ADI-R, K-ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 104
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
OTHERS
Results Alele 1 Alele 2 Statistic Method P value Study Information
A Cothers 0.35Ashley-Koch,2006_1
  • Ancestral: Caucasian
  • Country: USA
  • Diagnosis criteria: ADI-R
  • Final diagnosis: AD
  • Family : Total Family: 470 Simplex Family: 205 Multiplex Family: 265
  • Affected: All: - Women: - Age: - Age Range: (3-21) IQ:- IQ Range:-
  • Unaffected: All:-
A CPDT -Ma,2005_1
  • Ancestral: Caucasian
  • Country: CAT, AGRE
  • Diagnosis criteria: DSM-IV, ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 470 Simplex Family: 266 Multiplex Family: 204
  • Affected: All: - Women: - Age: - Age Range: (3-21) IQ:- IQ Range:>35
  • 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
C
- (49.00%)
- (47.00%)
A
- (51%)
- (53%)
C/C
- ( - )
- ( - )
C/A
- ( - )
- ( - )
A/A
- ( - )
- ( - )
0.6Tochigi,2007_1
  • Ancestral: Asian
  • Country: Japan
  • Diagnosis criteria: DSM-IV,CBQ-R
  • Final diagnosis: ASD
  • Case description: People:166 Women: 19
  • Age: 19.9 ± 9.8
  • Control description: People: 412 Women: 276
  • Age: 36 ± 11.5
Genome-Wide Association Studies
Family Based Association Studies: 0 results 
Case-Control Based Association Studies: 0 results 

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Syndromic Genes

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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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