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
AutG283987C17orf28 - 17 72956159 C A 0 0 1 0 0 0 1
AutG10476ATP5H - 17 73038261 G A 0 0 1 0 0 0 1
AutG9121SLC16A5 - 17 73096566 G A 0 0 1 0 0 0 1
AutG9772KIAA0195 - 17 73487233 C T 0 0 1 0 0 0 1
AutG9772KIAA0195 - 17 73491637 C T 0 0 1 0 0 0 1
AutG3993LLGL2 - 17 73568032 G A 0 0 1 0 0 0 1 Positive
AutG85451UNK - 17 73780743 C Y 0 0 1 0 0 0 1
AutG2125EVPL - 17 74013881 C T 0 0 1 0 0 0 1 Positive
AutG63893UBE2O - 17 74392872 C G 0 0 1 0 0 0 1 Positive
AutGMETTL23 - 17 74729178 TGAA T 0 0 1 0 0 0 1
AutG6397SEC14L1 - 17 75201419 G A 0 0 1 0 0 0 1
AutG57690TNRC6C - 17 76067246 G A 0 0 1 0 0 0 1
AutG125061AFMID - 17 76183461 G T 0 0 1 0 0 0 1
AutG8632DNAH17 - 17 76420174 G R 0 0 1 0 0 0 1 Positive
AutG8632DNAH17 - 17 76521156 T A 0 0 1 0 0 0 1
AutG3959LGALS3BP - 17 76967677 T C 0 0 1 0 0 0 1
AutG146713RBFOX3 - 17 77385959 C A 0 0 1 0 0 0 1
AutG125058TBC1D16 - 17 77922739 G A 0 0 1 0 0 0 1
AutG55036CCDC40 - 17 78013636 G T 0 0 1 0 0 0 1
AutG57674RNF213 - 17 78263533 G A 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