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
AutG8519IFITM1 - 11 314978 C T 0 0 1 0 0 0 1
AutG10844TUBGCP2 - 10 135106567 T C 0 0 1 0 0 0 1
AutG85442KNDC1 - 10 135027506 ACC AC 0 0 1 0 0 0 1
AutG85442KNDC1 - 10 135027123 A G 0 0 1 0 0 0 1
AutG80313LRRC27 - 10 134158126 C T 0 0 1 0 0 0 1
AutG282974STK32C - 10 134025920 A T 0 0 1 0 0 0 1
AutG282973JAKMIP3 - 10 133950737 T - 0 0 1 0 0 0 1
AutG55844PPP2R2D - 10 133761014 CATTTT C 0 0 1 0 0 0 1
AutG256536TCERG1L - 10 133109867 C T 0 0 1 0 0 0 1
AutG256536TCERG1L - 10 132965082 C T 0 0 1 0 0 0 1
AutG256536TCERG1L - 10 132915185 G A 0 0 1 0 0 0 1
AutG4288MKI67 - 10 129906031 T A 0 0 1 0 0 0 1 Positive
AutG4288MKI67 - 10 129903200 A R 0 0 1 0 0 0 1
AutG4288MKI67 - 10 129901679 - TTG 0 0 1 0 0 0 1
AutG1793DOCK1 - 10 129242541 C T 0 0 1 0 0 0 1 Positive
AutG118611C10orf90 - 10 128193561 A AG 0 0 1 0 0 0 1
AutG118856MMP21 - 10 127461301 G A 0 0 1 0 0 0 1
AutG1488CTBP2 - 10 126681769 C T 0 0 1 0 0 0 1
AutG119587CPXM2 - 10 125521594 G A 0 0 1 0 0 0 1
AutG9184BUB3 - 10 124923291 GC G 0 0 1 0 0 0 1

Page Counts: 171/584  
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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