AutismKB

Detailed Information for rs2217262

Basic Information
SNP Name:rs2217262
SNP location:chr7:111583612-111583613
Related Gene:DOCK4
Function:intron
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
0 0 2 2
Low Scale Association Studies
Family Based Association Studies: 0 results 
Case-Control Based Association Studies: 0 results 
Genome-Wide Association Studies
Family Based Association Studies: 2 results 
Transmission Disequilibrium Test (TDT)
Results #Informative Families Alele Name Transmitted (frequency) Non-Transmitted (frequency) P valueCombined P ValueStudy Information
- A
C
- ( - )
- ( - )
- ( - )
- ( - )
1.43E-02-Maestrini,2009_2
  • Ancestral: Caucasian
  • Country: IMGSAC
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 127 Simplex Family: 101 Multiplex Family: 26
  • Affected: All: 127 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- A
A
- (96.20%)
- (92.10%)
- (92.10%)
- (96.20%)
9.21E-04-Maestrini,2009_3
  • Ancestral: Caucasian
  • Country: IMGSAC, ND
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 390 Simplex Family: 321 Multiplex Family: 69
  • Affected: All: 390 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
Case-Control Based Association Studies: 2 results 
Results Alele Type Genotype P value Combined P valueStudy Information
Allele 1 Allele 2 Allele 1/Allele 1 Allele 1/Allele 2 Allele 2/Allele 2

ASD
CTR
A
- ( - )
- ( - )
C
- ( - )
- ( - )
-
- ( - )
- ( - )
-
- ( - )
- ( - )
-
- ( - )
- ( - )
4.20E-03-Maestrini,2009_5
  • Ancestral: Caucasian
  • Country: IMGSAC
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: ASD
  • Case description: People:127 Women: 26
  • Control description: People: 188 Women: 40
  • Stage: Discovery

ASD
CTR
A
96 ( - )
- (92.00%)
C
- ( - )
- (8%)
-
- ( - )
- ( - )
-
- ( - )
- ( - )
-
- ( - )
- ( - )
-5.23E-05Maestrini,2009_6
  • Ancestral: Caucasian
  • Country: IMGSAC, ND
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: ASD
  • Case description: People:294 Women: 58
  • Control description: People: 180 Women: 36
  • Stage: Replication

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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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