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
AutG2625GATA3 - 10 8165266 C - 0 0 0 0 1 0 1
AutG2625GATA3 - 10 8165271 - ATC 0 0 0 0 1 0 1
AutG2625GATA3 - 10 8165274 C - 0 0 0 0 1 0 1
AutG2625GATA3 - 10 8165278 - ATCT 0 0 0 0 1 0 1
AutG2625GATA3 - 10 8165278 C T 0 0 0 0 1 0 1
AutG2625GATA3 - 10 8165281 C - 0 0 0 0 1 0 1
AutG92211CDHR1 - 10 85972932 A G 0 0 0 0 1 0 1
AutG2894GRID1 - 10 87769097 - C 0 0 0 0 1 0 1
AutG79812MMRN2 - 10 88703106 C T 0 0 0 0 1 0 1
AutG5728PTEN - 10 89624269 A - 0 0 0 0 1 0 1
AutG5728PTEN - 10 89653781 - - 0 0 0 0 1 0 1
AutG5728PTEN - 10 89653851 - - 0 0 0 0 1 0 1
AutG5728PTEN - 10 89692913 - - 0 0 0 0 1 0 1
AutG5728PTEN - 10 89717615 C T 0 0 0 0 1 0 1
AutG5728PTEN - 10 89727635 C Y 0 0 0 0 1 0 1 Positive
AutG3434IFIT1 - 10 91162622-623 - A 0 0 0 0 1 0 1
AutG3363HTR7 - 10 92509055 G A 0 0 0 0 1 0 1
AutG1562CYP2C18 - 10 96447920 C T 0 0 0 0 1 0 1
AutG10580SORBS1 - 10 97194397 C G 0 0 0 0 1 0 1
AutG9849ZNF518A - 10 97949454 - ATCATC 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