AutismKB

Detailed Information for rs2254298

Basic Information
SNP Name:rs2254298
SNP location:chr3:8777227-8777228
Related Gene:OXTR
Function:intron
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
5 1 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
- C
T
- (0.50%)
- (99.50%)
- (99.50%)
- (0.50%)
1Wermter,2009_1
  • Ancestral: Caucasian
  • Country: Germany
  • Diagnosis criteria: ICD-10,ADI-R,ADOS-G,IQ(WISC-III/WAIS-R),DSM-IV
  • Final diagnosis: ASD
  • Family : Total Family: 100 Simplex Family: 100
  • Affected: All: 100 Women: 5 Age: 12.2 ± 4.7 Age Range: (6-24) IQ:100.2 ± 19.4 IQ Range:-
  • Unaffected: All:
- G
A
21 ( - )
9 ( - )
9 ( - )
21 ( - )
0.03Jacob,2007_1
  • Ancestral: Caucasian
  • Country: USA
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: AD
  • Family : Total Family: 57
  • Affected: All: 57 Women: 12 Age: 6.4 ± 3.5 Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
124 A
G
100 ( - )
156 ( - )
156 ( - )
100 ( - )
0.389Liu,2010_1
  • Ancestral: Asian
  • Country: Japan
  • Diagnosis criteria: DSM-IV
  • Final diagnosis: ASD
  • Family : Total Family: 217
  • Affected: All: 223 Women: 34 Age: 18.35 ± 9.5 Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
OTHERS
Results Alele 1 Alele 2 Statistic Method P value Study Information
G APDT -Wu,2005_1
  • Ancestral: Asian
  • Country: China
  • Diagnosis criteria: DSM-IV
  • Final diagnosis: ASD
  • Family : Total Family: 195 Simplex Family: 195
  • Affected: All: 195 Women: 21 Age: 6.7 ± 2.9 Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
A Gothers 0.6547Lerer,2008_1
  • Ancestral: Asian
  • Country: Israel
  • Diagnosis criteria: DSM-IV,ADI-R,ADOS-G,VABS
  • Final diagnosis: ASD
  • Family : Total Family: 133
  • Affected: All: 152 Women: 24 Age: - Age Range: (2.08-33.67) IQ:68.7 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
- (33.50%)
- (25.60%)
G
- (66.50%)
- (74.40%)
A/A
- ( - )
- ( - )
A/G
- ( - )
- ( - )
G/G
- ( - )
- ( - )
0.001Liu,2010_1
  • Ancestral: Asian
  • Country: Japan
  • Diagnosis criteria: DSM-IV
  • Final diagnosis: ASD
  • Case description: People:288 Women: 42
  • Age: 18.35 ± 9.5 (223), 25.20 ± 4.8 (65)
  • Control description: People: 440 Women: 168
  • Age: 40.9 ± 9.7
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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