AutismKB


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Detailed Information for rs1861973

Basic Information
SNP Name:rs1861973
SNP location:chr7:154946905-154946906
Related Gene:EN2
Function:intron
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
6 2 0 0
Low Scale Association Studies
Family Based Association Studies: 6 results 
Transmission Disequilibrium Test (TDT)
Results #Informative Families Alele Name Transmitted (frequency) Non-Transmitted (frequency) P valueStudy Information
54 C
T
37 (0.64%)
21 (0.36%)
21 (0.36%)
37 (0.64%)
0.05Sen,2010_1
  • Ancestral: Caucasian
  • Country: India
  • Diagnosis criteria: DSM-IV, CARS
  • Final diagnosis: ASD
  • Family : Total Family: 128 Simplex Family: 105
  • Affected: All: 128 Women: 22 Age: 5.98 ± 3.1 Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
- T
C
34 ( - )
71 ( - )
71 ( - )
34 ( - )
0.0003Gharani,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:-
- C
T
449 ( - )
415 ( - )
415 ( - )
449 ( - )
0.0121Benayed,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:-
- C
T
546 ( - )
500 ( - )
500 ( - )
546 ( - )
0.0121Benayed,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:-
- C
T
234 ( - )
209 ( - )
209 ( - )
234 ( - )
0.0181Benayed,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
C Tothers 0.6056Wang,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
T
31 (8.42%)
31 (4.04%)
C
337 (91.58%)
737 (95.96%)
T/T
2 (1.09%)
0 (0.00%)
T/C
27 (14.67%)
31 (8.07%)
C/C
155 (84.24%)
353 (91.93%)
0.0032Yang,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
T
31 (8.42%)
28 (6.19%)
C
337 (91.58%)
424 (93.81%)
T/T
2 (1.09%)
0 (0.00%)
T/C
27 (14.67%)
28 (12.39%)
C/C
155 (84.24%)
198 (87.61%)
0.2206Yang,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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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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