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
AutG4204MECP2 - X 153296399 - - 0 0 1 0 0 0 1
AutG4204MECP2 - X 153296399 G A/G 0 0 1 0 0 0 1
AutG4204MECP2 - X 153296471 G A 0 0 1 0 0 0 1
AutG4204MECP2 - X 153296516 G A/G 0 0 1 0 0 0 1
AutG4204MECP2 - X 153296591 C CG 0 0 1 0 0 0 1
AutG4204MECP2 - X 153296824 - - 0 0 1 0 0 0 1
AutG5956OPN1LW - X 153416315 A G 0 0 1 0 0 0 1
AutG2316FLNA - X 153580387 C T 0 0 1 0 0 0 1 Positive
AutG55558PLXNA3 - X 153692845 G A 0 0 1 0 0 0 1
AutG139716GAB3 - X 153908482 G A 0 0 1 0 0 0 1
AutG2157F8 - X 154227738 A G 0 0 1 0 0 0 1
AutG55217TMLHE - X 154770750 - - 0 0 1 0 0 0 1
AutG22829NLGN4Y - Y 16639135 C T 0 0 1 0 0 0 1
AutG27237ARHGEF16 - 1 3385486 C T 0 0 0 1 0 0 1
AutG339448C1orf174 - 1 3806547 C T 0 0 0 1 0 0 1
- 1 10402235 C G 0 0 0 1 0 0 1
AutG2475MTOR - 1 11190804 C T 0 0 0 1 0 0 1
AutG943TNFRSF8 - 1 12175787 G A 0 0 0 1 0 0 1
AutG343069HNRNPCL1 - 1 12907860 C T 0 0 0 1 0 0 1
AutG54751FBLIM1 - 1 16101147 T G 0 0 0 1 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