AutismKB

Detailed Information for rs5918

Basic Information
SNP Name:rs5918
SNP location:chr17:42715728-42715729
Related Gene:ITGB3
Function:missense
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
4 0 0 0
Low Scale Association Studies
Family Based Association Studies: 4 results 
Transmission Disequilibrium Test (TDT)
Results #Informative Families Alele Name Transmitted (frequency) Non-Transmitted (frequency) P valueStudy Information
- T
C
43 ( - )
35 ( - )
35 ( - )
43 ( - )
0.3647Coutinho,2007_1
  • Ancestral: Caucasian
  • Country: Portugal
  • Diagnosis criteria: DSM-IV, ADI-R, CARS, IQ
  • Final diagnosis: AD
  • Family : Total Family: 186 Simplex Family: 186
  • Affected: All: 186 Women: - Age: 6.8 Age Range: (2-18) IQ:- IQ Range:-
  • Unaffected: All:
- T
T
21 ( - )
14 ( - )
14 ( - )
21 ( - )
0.24Weiss,2006_2
  • Ancestral: Caucasian
  • Country: USA
  • Diagnosis criteria: ADI-R
  • Final diagnosis: AD
  • Family : Total Family: 643 Simplex Family: 79 Multiplex Family: 564
  • Affected: All: 1255 Women: 268 Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- G
A
- ( - )
- ( - )
- ( - )
- ( - )
0.71Cochrane,2010_1
  • Ancestral: Caucasian
  • Country: Ireland
  • Diagnosis criteria: ADI-R, ADOS-G
  • Final diagnosis: ASD
  • Family : Total Family: 177
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
OTHERS
Results Alele 1 Alele 2 Statistic Method P value Study Information
C TPDT -Ma,2009_1
  • Ancestral: Caucasian (non-Hispanic)
  • Country:
  • Diagnosis criteria: DSM-IV,ADI-R
  • Final diagnosis: autism
  • Family : Total Family: 290
  • 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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  (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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