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
AutG80131LRRC8E - 19 7964482 G A 0 0 0 0 1 0 1
AutG80131LRRC8E - 19 7965639-640 CA - 0 0 0 0 1 0 1
AutG84467FBN3 - 19 8175770 T A 0 0 0 0 1 0 1
AutG84467FBN3 - 19 8183871 G A 0 0 0 0 1 0 1
AutG91300C19orf22 - 19 900951 A G 0 0 0 0 1 0 1
AutG84527ZNF559 - 19 9452698 G A 0 0 0 0 1 0 1
AutG10781ZNF266 - 19 9524715 A G 0 0 0 0 1 0 1
AutG100287010LOC100287010 - 2 104824129 A T 0 0 0 0 1 0 1
AutG699BUB1 - 2 111415224 A G 0 0 0 0 1 0 1
AutG11159RABL2A - 2 114392641 G - 0 0 0 0 1 0 1
AutG57628DPP10 - 2 116474431 A T 0 0 0 0 1 0 1
AutG23620NTSR2 - 2 11802293 A T 0 0 0 0 1 0 1
AutG23175LPIN1 - 2 11945252 G C 0 0 0 0 1 0 1 Positive
AutG100506457LOC100506457 - 2 12061340 T A 0 0 0 0 1 0 1
AutG129684CNTNAP5 - 2 124653417 - T 0 0 0 0 1 0 1
AutG54221SNTG2 - 2 1271174 T C 0 0 0 0 1 0 1
AutG90557CCDC74A - 2 132287879 G A 0 0 0 0 1 0 1
AutG90557CCDC74A - 2 132290912 G A 0 0 0 0 1 0 1
AutG80122YSK4 - 2 135756467 G A 0 0 0 0 1 0 1
AutG3938LCT - 2 136594528 T G 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