AutismKB


Deprecated: mysql_connect(): The mysql extension is deprecated and will be removed in the future: use mysqli or PDO instead in /rd1/www/autismkb_www/mysql_connect.php on line 14

Detailed Information for rs1858830

Basic Information
SNP Name:rs1858830
SNP location:chr7:116099674-116099675
Related Gene:MET
Function:near-gene-5
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
8 5 0 0
Low Scale Association Studies
Family Based Association Studies: 8 results 
Transmission Disequilibrium Test (TDT)
Results #Informative Families Alele Name Transmitted (frequency) Non-Transmitted (frequency) P valueStudy Information
343 G
C
- ( - )
- ( - )
- ( - )
- ( - )
0.262Zhou,2011_2
  • Ancestral: Asian
  • Country: China
  • Diagnosis criteria: DSM-IV, CARS, ABC
  • Final diagnosis: ASD, PDD-NOS
  • Family : Total Family: 361 Simplex Family: 361
  • Affected: All: 361 Women: 51 Age: 4.67 ± 2.19 Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- C
G
- ( - )
261 ( - )
261 ( - )
246 ( - )
0.555Sosha,2009_1
  • Ancestral: Caucasian
  • Country: IMGSAC
  • Diagnosis criteria: ADI-R,VABS
  • Final diagnosis: ASD
  • Family : Total Family: 335 Simplex Family: 10 Multiplex Family: 325
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- C
G
- ( - )
49 ( - )
49 ( - )
33 ( - )
0.067Sosha,2009_2
  • Ancestral: Caucasian
  • Country: Italy
  • Diagnosis criteria: ADI-R,VABS
  • Final diagnosis: ASD
  • Family : Total Family: 82 Simplex Family: 82
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- G
G
- (0.50%)
- (0.50%)
- (0.50%)
- (0.50%)
0.837Thanseem,2010_1
  • Ancestral: Asian
  • Country: Japan
  • Diagnosis criteria: DSM-IV, ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 126 Simplex Family: 126
  • Affected: All: 126 Women: 19 Age: 10.49 ± 4.75 Age Range: - IQ:82.06 ± 26.6 IQ Range:-
  • Unaffected: All:
OTHERS
Results Alele 1 Alele 2 Statistic Method P value Study Information
C GPDT 0.000005Campbell,2006_1
  • Ancestral: Caucasian
  • Country: Italy, AGRE
  • Diagnosis criteria: ADI(AGRE), DSM-IV,ADI-R, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 743 Simplex Family: 265 Multiplex Family: 478
  • Affected: All: 1231 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
C GPDT 0.000001Campbell,2009_1
  • Ancestral: Caucasian
  • Country: AGRE, Italy, USA
  • Diagnosis criteria: ADI-R, ADOS-G, SRS
  • Final diagnosis: ASD
  • Family : Total Family: 848
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
C GPDT 0.008Campbell,2009_1
  • Ancestral: Caucasian
  • Country: AGRE, USA
  • Diagnosis criteria: ADI-R, ADOS-G, SRS
  • Final diagnosis: ASD
  • Family : Total Family: 629 Simplex Family: 90 Multiplex Family: 539
  • Affected: All: 1228 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
C GPDT 0.014Campbell,2009_1
  • Ancestral: Caucasian
  • Country: AGRE
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 214
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
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
G
201 (57.76%)
482 (65.31%)
C
147 (42.24%)
256 (34.69%)
G/G
55 (31.61%)
159 (43.09%)
G/C
91 (52.30%)
164 (44.44%)
C/C
28 (16.09%)
46 (12.47%)
0.01Jackson,2009_1
  • Ancestral: mixed
  • Country: USA
  • Diagnosis criteria: ADI-R, CARS
  • Final diagnosis: AD
  • Case description: People:174
  • Age range: (5-21)
  • Control description: People: 369

ASD
CTR
G
45 (44.12%)
133 (52.78%)
C
57 (55.88%)
119 (47.22%)
G/G
12 (31.61%)
34 (26.98%)
G/C
21 (41.18%)
65 (51.59%)
C/C
18 (35.29%)
27 (21.43%)
0.16Jackson,2009_2
  • Ancestral: Caucasian (non-Hispanic)
  • Country: Italy
  • Diagnosis criteria: ADI-R and/or ADOS
  • Final diagnosis: PDD
  • Case description: People:51
  • Control description: People: 126

ASD
CTR
C
- (57.75%)
- (51.30%)
G
- (42.25%)
- (48.70%)
C/C
- (32.00%)
- (27.10%)
C/G
- (51.50%)
- (48.40%)
G/G
- (16.40%)
- (24.50%)
0.011Campbell,2009_1
  • Ancestral: Caucasian
  • Country: AGRE, USA
  • Diagnosis criteria: ADI-R, ADOS-G, SRS
  • Final diagnosis: ASD
  • Case description: People:1228
  • Control description: People: 312

ASD
CTR
C
- (60.90%)
- (47.90%)
G
- (39.10%)
- (52.10%)
C/C
- (34.80%)
- (21.70%)
C/G
- (52.20%)
- (52.40%)
G/G
- (13.00%)
- (25.90%)
0.002Campbell,2009_1
  • Ancestral: Caucasian
  • Country: AGRE
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: ASD
  • Case description: People:115
  • Control description: People: 189

ASD
CTR
G
516 (0.66%)
744 (0.65%)
C
270 (0.34%)
396 (0.35%)
GG
174 (0.44%)
240 (0.42%)
GC
168 (0.43%)
264 (0.46%)
CC
51 (0.13%)
66 (0.12%)
0.861 Zhou,2011_1
  • Ancestral: Asian
  • Country: China
  • Diagnosis criteria: "DSM-IV, CARS, ABC"
  • Final diagnosis: "ASD, PDD"
  • Case description: People:401 Women: 56
  • Control description: People: 594 Women: 105
  • Age: 17.37 ± 5.62
Genome-Wide Association Studies
Family Based Association Studies: 0 results 
Case-Control Based Association Studies: 0 results 

Quick Search:


  (e.g. NLGN4X)

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
  • Click to Download Data

Registered with NIF