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
AutG5535PPP3R2 - 9 104357062 C T 0 0 0 0 1 0 1
AutG116443GRIN3A - 9 104920320 C T 0 0 0 0 1 0 1
AutG19ABCA1 - 9 107594868 C G 0 0 0 0 1 0 1
AutG114987WDR31 - 9 116080796 C A 0 0 0 0 1 0 1
AutG3371TNC - 9 117803595 AA GG 0 0 0 0 1 0 1
AutG5090PBX3 - 9 128906917 - A 0 0 0 0 1 0 1
AutG7633ZNF79 - 9 130206305 C A 0 0 0 0 1 0 1
AutG6812STXBP1 - 9 130374692 A A/G 0 0 0 0 1 0 1 Positive
AutG6812STXBP1 - 9 130422318 T C/T 0 0 0 0 1 0 1 Positive
AutG3934LCN2 - 9 130914200 C T 0 0 0 0 1 0 1
AutG25792CIZ1 - 9 130941377 T C 0 0 0 0 1 0 1
AutG375759C9orf50 - 9 132375739 A G 0 0 0 0 1 0 1
AutG10319LAMC3 - 9 134921899 G S 0 0 0 0 1 0 1 Positive
AutG10319LAMC3 - 9 134942682 T W 0 0 0 0 1 0 1 Positive
AutG10319LAMC3 - 9 134952532 * -C/* 0 0 0 0 1 0 1 Positive
AutG10319LAMC3 - 9 134964808 C Y 0 0 0 0 1 0 1 Positive
AutG23064SETX - 9 135153629 C T 0 0 0 0 1 0 1 Positive
AutG7248TSC1 - 9 135797313 G A 0 0 0 0 1 0 1
AutG7248TSC1 - 9 135804244 T C 0 0 0 0 1 0 1 Positive
AutG29989OBP2B - 9 136083971 G A 0 0 0 0 1 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