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
AutG154664ABCA13 - 7 48273776 C T 0 0 0 0 1 0 1
AutG79034C7orf26 - 7 6631481 G T 0 0 0 0 1 0 1
AutGLOC102723427 - 7 67801783 A G 0 0 0 0 1 0 1
AutG26053AUTS2 - 7 69364416 - - 0 0 0 0 1 0 1 Positive
AutG26053AUTS2 - 7 69755471 G A 0 0 0 0 1 0 1 Positive
AutG26608TBL2 - 7 72992858 - - 0 0 0 0 1 0 1 Positive
AutG84277DNAJC30 - 7 73097713 G A 0 0 0 0 1 0 1
AutG83451ABHD11 - 7 73150986 C T 0 0 0 0 1 0 1
AutG1365CLDN3 - 7 73183979 G A 0 0 0 0 1 0 1
AutGUMAD1 - 7 7812321 G A 0 0 0 0 1 0 1
AutGUMAD1 - 7 7812359 G A 0 0 0 0 1 0 1
AutG54919HEATR2 - 7 803506 C T 0 0 0 0 1 0 1
AutG113263GLCCI1 - 7 8126004 G A 0 0 0 0 1 0 1
AutG79161C7orf23 - 7 86827302 G T 0 0 0 0 1 0 1
AutG8321FZD1 - 7 91458027 A T 0 0 0 0 1 0 1
AutG8321FZD1 - 7 91458033 A T 0 0 0 0 1 0 1
AutG10142AKAP9 - 7 91630490 A G 0 0 0 0 1 0 1
AutG54809SAMD9 - 7 92734051 C T 0 0 0 0 1 0 1
AutG57001ACN9 - 7 96747192 T C 0 0 0 0 1 0 1
AutG22853LMTK2 - 7 97821294 C T 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