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
AutG1859DYRK1A - 21 39956789 T K 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41385061 C C/T 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41414459 G A/G 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41416053 C C/G 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41450679 C C/T 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41450767 C C/T 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41452080 T G/T 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41452148 G C/G 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41457647 G C/G 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41465723 C C/T 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41514487 C A/C 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41514571 A A/G 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41539180 G A/G 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41550907 C C/T 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41684227 T C/T 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41711143 G G/T 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41719630 A A/C 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 41719720 T C/T 0 0 0 0 1 0 1 Positive
AutG1826DSCAM - 21 42080494 T C/T 0 0 0 0 1 0 1 Positive
AutG54101RIPK4 - 21 43165935 C G 0 0 0 0 1 0 1

Page Counts: 493/584  
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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