AutismKB


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Detailed Information for rs2292813

Basic Information
SNP Name:rs2292813
SNP location:chr2:172352474-172352475
Related Gene:SLC25A12
Function:intron
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
9 1 0 0
Low Scale Association Studies
Family Based Association Studies: 9 results 
Transmission Disequilibrium Test (TDT)
Results #Informative Families Alele Name Transmitted (frequency) Non-Transmitted (frequency) P valueStudy Information
- C
T
39 ( - )
39 ( - )
39 ( - )
39 ( - )
1Palmieri,2008_1
  • Ancestral: Caucasian
  • Country: Italy, AGRE
  • Diagnosis criteria: DSM-IV,CARS, VABS, ABC,ADOS & ADI-R(only AGRE)
  • Final diagnosis: ASD
  • Family : Total Family: 326 Simplex Family: 309 Multiplex Family: 17
  • Affected: All: 346 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
50 C
T
34 ( - )
18 ( - )
18 ( - )
34 ( - )
<0.04Segurado,2005_1
  • Ancestral: Caucasian
  • Country: Ireland
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 167
  • Affected: All: 174 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- G
T
72 ( - )
45 ( - )
45 ( - )
72 ( - )
0.01Ramoz,2004_1
  • Ancestral: Caucasian
  • Country: AGRE
  • Diagnosis criteria: ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 411 Simplex Family: 137 Multiplex Family: 274
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- A
G
- ( - )
- ( - )
- ( - )
- ( - )
0.0018Turunen,2008_1
  • Ancestral: Caucasian
  • Country: Finland
  • Diagnosis criteria: DSM-IV,ICD-10
  • Final diagnosis: AD
  • Family : Total Family: 97 Simplex Family: 66 Multiplex Family: 31
  • Affected: All: 118 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- G
A
64 ( - )
50 ( - )
50 ( - )
64 ( - )
0.17Blasi,2006_1
  • Ancestral: Caucasian
  • Country: IMGSAC
  • Diagnosis criteria: ADI-R, VABS, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 261
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- A
G
- ( - )
- ( - )
- ( - )
- ( - )
0.4913Turunen,2008_2
  • Ancestral: Caucasian
  • Country: Finland
  • Diagnosis criteria: ICD-10
  • Final diagnosis: AS
  • Family : Total Family: 29
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
OTHERS
Results Alele 1 Alele 2 Statistic Method P value Study Information
C Tothers 0.38Carayol,2010_1
  • Ancestral: Caucasian
  • Country: USA
  • Diagnosis criteria: ADI-R, DSM-IV
  • Final diagnosis: autism
  • Family : Total Family: 222 Multiplex Family: 222
  • Affected: All: 527 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
C Tothers 0.566Rabionet,2006_1
  • Ancestral: Caucasian
  • Country: USA
  • Diagnosis criteria: DSM-IV
  • Final diagnosis: AD
  • Family : Total Family: 327
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
A Gothers 0.431Kim,2011_1
  • Ancestral: Caucasian
  • Country: USA
  • Diagnosis criteria: DSM_IV-TR, ADIR, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 720 Simplex Family: 720
  • Affected: All: 720 Women: 100 Age: 6.9 ± 2.8 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
848 (91.18%)
800 (88.89%)
A
82 (8.82%)
100 (21.93%)
G/G
389 (83.66%)
356 (79.11%)
G/A
70 (15.05%)
88 (19.56%)
A/A
6 (1.29%)
6 (1.33%)
0.1Chien,2009_1
  • Ancestral: Asian
  • Country: China
  • Diagnosis criteria: DSM-IV, ADI-R, ICD-10
  • Final diagnosis: ASD
  • Case description: People:465 Women: 63
  • Age: 9.4 ± 4.2
  • Control description: People: 450 Women: 223
  • Age: 45.9 ± 13.4 years(male), 46.6 ± 11.7 years(female)
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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