AutismKB


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Detailed Information for rs10951154

Basic Information
SNP Name:rs10951154
SNP location:chr7:27101838-27101839
Related Gene:HOXA1
Function:missense
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
7 7 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
71 A
G
48 ( - )
23 ( - )
23 ( - )
48 ( - )
<0.005Conciatori,2004_1
  • Ancestral: Caucasian
  • Country: Italy, AGRE
  • Diagnosis criteria: DSM-IV,CARS, VABS, ABC,ADOS & ADI-R(only AGRE)
  • Final diagnosis: ASD
  • Family : Total Family: 201 Simplex Family: 175 Multiplex Family: 26
  • Affected: All: 228 Women: 27 Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
47 A
G
29 ( - )
18 ( - )
18 ( - )
29 ( - )
-Collins,2003_1
  • Ancestral: Caucasian
  • Country: USA
  • Diagnosis criteria: DSM-IV-R, CARS,ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 383
  • Affected: All: 133 Women: 31 Age: - Age Range: (5-21) IQ:- IQ Range:-
  • Unaffected: All:-
34 A
G
16 ( - )
18 ( - )
18 ( - )
16 ( - )
-Collins,2003_2
  • Ancestral: African
  • Country: USA
  • Diagnosis criteria: DSM-IV-R, CARS,ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 144
  • Affected: All: 65 Women: 10 Age: - Age Range: (5-21) IQ:- IQ Range:-
  • Unaffected: All:-
- A
G
15 ( - )
19 ( - )
19 ( - )
15 ( - )
-Romano,2003_1
  • Ancestral: Caucasian
  • Country: Italy
  • Diagnosis criteria: DSM-IV, CARS
  • Final diagnosis: AD
  • Family : Total Family: 85
  • Affected: All: 89 Women: 12 Age: 10.44 ± 5.68 Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- A
G
50 ( - )
54 ( - )
54 ( - )
9 ( - )
-Li,2002_1
  • Ancestral: Caucasian
  • Country:
  • Diagnosis criteria: ADI, ADOS,ICD-10, DSM-IV
  • Final diagnosis: AD
  • Family : Total Family: 110
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- A
G
- ( - )
- ( - )
- ( - )
- ( - )
0.1996Luise Gallagher,2004_1
  • Ancestral: Caucasian
  • Country: Ireland(mixed)
  • Diagnosis criteria: ADI-R, ADOS-G, DSM-IV
  • Final diagnosis: ASD
  • Family : Total Family: 78
  • 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 -Sen,2007_1
  • Ancestral: Asian
  • Country: India
  • Diagnosis criteria: CARS, DSM-IV
  • Final diagnosis: AD
  • Family : Total Family:
  • Affected: All: 80 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
Case-Control Based Association Studies: 7 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 (8.64%)
34 (11.97%)
A
349 (91.36%)
250 (88.03%)
G/G
4 (2.10%)
1 (0.70%)
G/A
25 (13.10%)
32 (22.50%)
A/A
162 (84.80%)
109 (76.80%)
-Muscarella,2007_1
  • Ancestral: Caucasian
  • Country: Italy
  • Diagnosis criteria:
  • Final diagnosis: ASD
  • Case description: People:191
  • Age: 7.2 ± 2.6 Age range: (3-16)
  • Control description: People: 142
  • Age: 9.4 ± 3.3 Range: (3-16)

ASD
CTR
G
33 (8.64%)
58 (15.58%)
A
349 (91.36%)
308 (84.15%)
G/G
4 (2.10%)
4 (2.20%)
G/A
25 (13.10%)
50 (27.30%)
A/A
162 (84.80%)
129 (70.50%)
-Muscarella,2007_2
  • Ancestral: Caucasian
  • Country: Italy
  • Diagnosis criteria:
  • Final diagnosis: ASD
  • Case description: People:191
  • Age: 7.2 ± 2.6 Age range: (3-16)
  • Control description: People: 183
  • Age: 35.2 ± 8.8 Range: (18-51)

ASD
CTR
G
17 (6.69%)
44 (12.64%)
A
237 (93.31%)
304 (87.36%)
G/G
3 (2.40%)
1 (0.60%)
G/A
11 (8.60%)
42 (24.10%)
A/A
113 (89.00%)
131 (75.30%)
-Conciatori,2004_1
  • Ancestral: Caucasian
  • Country: Italy
  • Diagnosis criteria: DSM-IV,CARS, VABS, GMDS, ABC
  • Final diagnosis: ASD
  • Case description: People:127 Women: 15
  • Age: 7.36 ± 4.78 Age range: (3-33)
  • Control description: People: 174 Women: 83
  • Age: 52.6 ± 19.4 Range: (17-92)

ASD
CTR
G
- (16.00%)
- (17.00%)
A
- (84.00%)
- (83.00%)
G/G
7 (5.47%)
2 (1.52%)
G/A
27 (21.09%)
40 (30.30%)
A/A
94 (73.44%)
90 (68.18%)
0.08Collins,2003_1
  • Ancestral: Caucasian
  • Country: USA
  • Diagnosis criteria: DSM-IV-R, CARS,ADI-R
  • Final diagnosis: ASD
  • Case description: People:133 Women: 31
  • Age range: (5-21)
  • Control description: People: 132 Women: 62

ASD
CTR
G
- (54.00%)
- (57.00%)
A
- (46.00%)
- (43.00%)
G/G
22 (34.38%)
47 (37.01%)
G/A
25 (39.06%)
50 (39.37%)
A/A
17 (26.56%)
30 (23.62%)
-Collins,2003_2
  • Ancestral: African
  • Country: USA
  • Diagnosis criteria: DSM-IV-R, CARS,ADI-R
  • Final diagnosis: ASD
  • Case description: People:65 Women: 10
  • Age range: (5-21)
  • Control description: People: 127 Women: 58

ASD
CTR
A
- (83.00%)
- (77.00%)
G
- (17.00%)
- (23.00%)
A/A
24 (69.00%)
21 (60.00%)
A/G
10 (29.00%)
12 (34.00%)
G/G
1 (2.00%)
2 (6.00%)
-Talebizadeh,2002_1
  • Ancestral: Caucasian
  • Country: USA
  • Diagnosis criteria: DSM-IV,CARS,ADI-R
  • Final diagnosis: ASD
  • Case description: People:35 Women: 8
  • Age: 9.5 Age range: (1.7-37.3)
  • IQ: 66
  • Control description: People: 35 Women: 8

ASD
CTR
A
- (88.00%)
- (74.50%)
G
- (12.00%)
- (15.50%)
A/A
- ( - )
- ( - )
A/G
- ( - )
- ( - )
G/G
- ( - )
- ( - )
>0.31Romano,2003_1
  • Ancestral: Caucasian
  • Country: Italy
  • Diagnosis criteria: DSM-IV, CARS
  • Final diagnosis: AD
  • Case description: People:85
  • Control description: People: 132
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
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  • Last Update: 05/25/2012
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