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
AutG283373ANKRD52 - 12 56647081 T C 0 0 0 1 0 0 1 Positive
AutG283373ANKRD52 - 12 56648122 C A 0 0 0 1 0 0 1
AutG9924PAN2 - 12 56720411 G A 0 0 0 1 0 0 1
AutG506ATP5B - 12 57033938 G A 0 0 0 1 0 0 1
AutG5557PRIM1 - 12 57144858 T C 0 0 0 1 0 0 1
AutG4035LRP1 - 12 57605019 G A 0 0 0 1 0 0 1
AutG2735GLI1 - 12 57865430 A G 0 0 0 1 0 0 1
AutG9958USP15 - 12 62749154 T G 0 0 0 1 0 0 1
AutG144455E2F7 - 12 77440061 G A 0 0 0 1 0 0 1
AutG89795NAV3 - 12 78511923 G T 0 0 0 1 0 0 1
AutG8499PPFIA2 - 12 81769536 C T 0 0 0 1 0 0 1
AutG1634DCN - 12 91558512 G A 0 0 0 1 0 0 1
AutG3034HAL - 12 96374614 C A 0 0 0 1 0 0 1
AutG6404SELPLG - 12 109017494 G A 0 0 0 1 0 0 1
AutG283446MYO1H - 12 109877458 C T 0 0 0 1 0 0 1 Positive
AutG51434ANAPC7 - 12 110820727 G A 0 0 0 1 0 0 1
AutG8437RASAL1 - 12 113537769 G A 0 0 0 1 0 0 1
AutG27198HCAR1 - 12 123214180 C T 0 0 0 1 0 0 1 Positive
AutG23457ABCB9 - 12 123414608 G A 0 0 0 1 0 0 1
AutG196385DNAH10 - 12 124303750 G A 0 0 0 1 0 0 1 Positive

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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