AutismKB

Detailed Information for rs53576

Basic Information
SNP Name:rs53576
SNP location:chr3:8779370-8779371
Related Gene:OXTR
Function:intron
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
4 1 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
- C
T
- (0.57%)
- (99.43%)
- (99.43%)
- (0.57%)
0.217Wermter,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
23 ( - )
21 ( - )
21 ( - )
23 ( - )
0.76Jacob,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:
128 A
G
156 ( - )
104 ( - )
104 ( - )
156 ( - )
0.352Liu,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
A GPDT -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:-
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
G
- (33.30%)
- (38.30%)
A
- (66.70%)
- (61.70%)
G/G
- ( - )
- ( - )
G/A
- ( - )
- ( - )
A/A
- ( - )
- ( - )
0.053Liu,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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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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