AutismKB

Detailed Information for rs1861972

Basic Information
SNP Name:rs1861972
SNP location:chr7:154946753-154946754
Related Gene:EN2
Function:intron
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
7 2 0 0
Low Scale Association Studies
Family Based Association Studies: 7 results 
Transmission Disequilibrium Test (TDT)
Results #Informative Families Alele Name Transmitted (frequency) Non-Transmitted (frequency) P valueStudy Information
- G
A
40 ( - )
73 ( - )
73 ( - )
40 ( - )
0.0018Gharani,2004_1
  • Ancestral: Caucasian
  • Country: AGRE
  • Diagnosis criteria: ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 167 Simplex Family: 133 Multiplex Family: 34
  • Affected: All: 167 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- A
G
467 ( - )
436 ( - )
436 ( - )
467 ( - )
0.0155Benayed,2005_1
  • Ancestral: Caucasian
  • Country: AGRE
  • Diagnosis criteria: ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 167 Multiplex Family: 167
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- A
G
555 ( - )
513 ( - )
513 ( - )
555 ( - )
0.0296Benayed,2005_2
  • Ancestral: Caucasian
  • Country: AGRE
  • Diagnosis criteria: ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 222 Multiplex Family: 222
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- A
G
228 ( - )
206 ( - )
206 ( - )
228 ( - )
0.05Benayed,2005_3
  • Ancestral: Caucasian
  • Country: NIMH
  • Diagnosis criteria: partly ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 129 Multiplex Family: 129
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
OTHERS
Results Alele 1 Alele 2 Statistic Method P value Study Information
A Gothers 0.02Carayol,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:-
A Gothers 0.15Brune,2008_1
  • Ancestral: Mixed
  • Country: USA
  • Diagnosis criteria: ADI-R, ADOS, DSM-IV
  • Final diagnosis: ASD,AD
  • Family : Total Family: 643 Simplex Family: 366 Multiplex Family: 277
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
A Gothers 0.5994Wang,2008_1
  • Ancestral: Asian
  • Country: China
  • Diagnosis criteria: DSM-IV,CARS,ABC
  • Final diagnosis: AD
  • Family : Total Family: 210 Simplex Family: 210
  • Affected: All: 210 Women: 14 Age: 6.5 Age Range: (2-17) IQ:- IQ Range:-
  • Unaffected: All:
Case-Control Based Association Studies: 2 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 (9.22%)
47 (5.76%)
A
325 (90.78%)
769 (94.24%)
G/G
5 (2.79%)
0 (0.00%)
G/A
23 (12.85%)
47 (11.52%)
A/A
151 (84.36%)
361 (88.48%)
0.0348Yang,2008_1
  • Ancestral: Asian
  • Country: China
  • Diagnosis criteria: DSM-IV-TR
  • Final diagnosis: ASD
  • Case description: People:184
  • Age: 7.06 ± 4.35
  • Control description: People: 409
  • Age: 45.14 ± 14

ASD
CTR
G
33 (9.22%)
28 (6.19%)
A
325 (90.78%)
424 (93.81%)
G/G
5 (2.79%)
- ( - )
G/A
23 (12.85%)
28 (12.39%)
A/A
151 (84.36%)
198 (87.61%)
0.1068Yang,2008_2
  • Ancestral: Asian
  • Country: China
  • Diagnosis criteria: DSM-IV-TR
  • Final diagnosis: ASD
  • Case description: People:184
  • Age: 7.06 ± 4.35
  • Control description: People: 225
  • Age: 18.82 ± 5.36
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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