AutismKB

Detailed Information for rs821616

Basic Information
SNP Name:rs821616
SNP location:chr1:230211220-230211221
Related Gene:DISC1
Function:missense
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
130 A
T
186 ( - )
74 ( - )
74 ( - )
186 ( - )
0.467 Zheng,2011_1
  • Ancestral: Asian
  • Country: China
  • Diagnosis criteria: DSM-IV,CARS, ABC
  • Final diagnosis: autism
  • Family : Total Family: 367 Simplex Family: 367
  • Affected: All: 367 Women: 31 Age: 7.5 Age Range: (3-17) IQ:- IQ Range:-
  • Unaffected: All:
OTHERS
Results Alele 1 Alele 2 Statistic Method P value Study Information
A Tothers 0.783Kilpinen,2008_1
  • Ancestral: Caucasian
  • Country: Finland
  • Diagnosis criteria: ICD-10,DSM-IV,CARS
  • Final diagnosis: ASD
  • Family : Total Family: 97
  • Affected: All: 138 Women: 33 Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
A Tothers 0.403Kilpinen,2008_2
  • Ancestral: Caucasian
  • Country: Finland
  • Diagnosis criteria: ICD-10
  • Final diagnosis: AS
  • Family : Total Family: 29
  • Affected: All: 143 Women: 58 Age: - Age Range: - IQ:- 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
A
- (11.15%)
- (10.50%)
T
- (87.95%)
- (89.50%)
A/A
- (0.10%)
- (1.30%)
A/T
- (22.10%)
- (18.40%)
T/T
- (76.90%)
- (80.30%)
>0.05Lim,2009_1
  • Ancestral: Asian
  • Country: Korea
  • Diagnosis criteria: DSM-IV, CARS
  • Final diagnosis: ASD
  • Case description: People:195 Women: 16
  • Age: 39.9 ± 4.8(male), 14.1 ± 3.2(female)
  • Control description: People: 305 Women: 158
  • Age: 39.9 ± 5.8(male), 33.5 ± 6.2(female)
Genome-Wide Association Studies
Family Based Association Studies: 0 results 
Case-Control Based Association Studies: 0 results 

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  (e.g. NLGN4X)

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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