AutismKB 2.0

View SNVs/InDels


Entrez ID Gene Symbol SNP name Chr Position ref alt Evidence Number Total Number of Evidence Result
GWAS Low-Scale Genetic Association Studies NGS de novo Mutation Studies NGS Mosaic Mutation Studes NGS Other Studies Low-Scale Gene Studies
AutG166785MMAA - 4 146578882 G A 0 0 1 0 0 0 1
AutG4306NR3C2 - 4 148986808 G A 0 0 1 0 0 0 1
AutG4306NR3C2 - 4 149073677 G T 0 0 1 0 0 0 1
AutG152503SH3D19 - 4 152043356 C A 0 0 1 0 0 0 1
AutG27236ARFIP1 - 4 153750873 AAT A 0 0 1 0 0 0 1
AutG54798DCHS2 - 4 155241851 C T 0 0 1 0 0 0 1
AutG2982GUCY1A3 - 4 156634254 T A 0 0 1 0 0 0 1 Positive
AutG51802ACCN5 - 4 156764934 T C 0 0 1 0 0 0 1
AutG2891GRIA2 - 4 158234012 C T 0 0 1 0 0 0 1
AutG2891GRIA2 - 4 158254055 C T 0 0 1 0 0 0 1
AutG340017LOC340017 - 4 158546671 A G 0 0 1 0 0 0 1
AutG9693RAPGEF2 - 4 160259637 C A 0 0 1 0 0 0 1
AutG9693RAPGEF2 - 4 160264456 C G 0 0 1 0 0 0 1 Positive
- 4 164592622 G C 0 0 1 0 0 0 1
AutG1363CPE - 4 166414361 A G 0 0 1 0 0 0 1
AutG23022PALLD - 4 169454585 T C 0 0 1 0 0 0 1
AutG1182CLCN3 - 4 170618808 G A 0 0 1 0 0 0 1
AutG8001GLRA3 - 4 175749919 A G 0 0 1 0 0 0 1
AutG285501LOC285501 - 4 180873058 A G 0 0 1 0 0 0 1
AutG80014WWC2 - 4 184129311 T C 0 0 1 0 0 0 1

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018