AutismKB


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Detailed Information for rs4141463

Basic Information
SNP Name:rs4141463
SNP location:chr20:14695470-14695471
Related Gene:MACROD2
Function:intron
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
0 5 2 0
Low Scale Association Studies
Family Based Association Studies: 0 results 
Case-Control Based Association Studies: 5 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
C
384 (59.26%)
902 (55.00%)
T
264 (40.74%)
738 (45%)
C/C
104 (32.10%)
258 ( - )
C/T
176 (54.32%)
386 ( - )
T/T
44 (10.68%)
176 ( - )
0.064Curran,2011_1
  • Ancestral: Caucasian
  • Country: UK
  • Diagnosis criteria: DSM-IV, ADI-R, ADOS
  • Final diagnosis: ASD
  • Case description: People:324
  • Control description: People: 820

ASD
CTR
C
255 (54.03%)
1362 (59.48%)
T
217 (45.97%)
928 (40.52%)
C/C
71 (30.08%)
413 ( - )
C/T
113 (47.88%)
536 ( - )
T/T
52 (15.29%)
196 ( - )
0.029Curran,2011_2
  • Ancestral: Caucasian
  • Country: Germany
  • Diagnosis criteria: DSM-IV, ADI-R, ADOS
  • Final diagnosis: ASD
  • Case description: People:236
  • Control description: People: 1145

ASD
CTR
C
219 (59.51%)
699 (55.65%)
T
149 (40.49%)
557 (44.35%)
C/C
65 (35.33%)
202 ( - )
C/T
89 (48.37%)
295 ( - )
T/T
30 (12.30%)
131 ( - )
1Curran,2011_3
  • Ancestral: Caucasian
  • Country: NL
  • Diagnosis criteria: DSM-IV, ADI-R, ADOS
  • Final diagnosis: ASD
  • Case description: People:184
  • Control description: People: 628

ASD
CTR
C
107 (54.59%)
97 (54.49%)
T
89 (45.41%)
81 (45.51%)
C/C
35 (35.71%)
24 ( - )
C/T
37 (37.76%)
49 ( - )
T/T
26 (17.33%)
16 ( - )
0.62Curran,2011_4
  • Ancestral: Caucasian
  • Country: Italy
  • Diagnosis criteria: DSM-IV, ADI-R, ADOS
  • Final diagnosis: ASD
  • Case description: People:98
  • Control description: People: 89

ASD
CTR
C
360 (54.88%)
35238 (54.00%)
T
296 (45.12%)
30012 (46%)
C/C
- ( - )
- ( - )
C/T
- ( - )
- ( - )
T/T
- ( - )
- ( - )
-Curran,2011_5
  • Ancestral: Caucasian
  • Country: Iceland
  • Diagnosis criteria:
  • Final diagnosis:
  • Case description: People:328
  • Control description: People: 32625
Genome-Wide Association Studies
Family Based Association Studies: 2 results 
Transmission Disequilibrium Test (TDT)
Results #Informative Families Alele Name Transmitted (frequency) Non-Transmitted (frequency) P valueCombined P ValueStudy Information
- C
T
- ( - )
- ( - )
- ( - )
- ( - )
4.30E-05-Anney,2010_1
  • Ancestral: Caucasian
  • Country: AGP
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 1369
  • Affected: All: 1385 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- C
T
- ( - )
- ( - )
- ( - )
- ( - )
1.30E-014.70E-08Anney,2010_2
  • Ancestral: Caucasian
  • Country: AGRE
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 595
  • Affected: All: 1086 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
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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