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
AutG155185AMZ1 - 7 2748240 TGAA T 0 0 1 0 0 0 1
AutG84629TNRC18 - 7 5348876 T C 0 0 1 0 0 0 1
AutG60ACTB - 7 5567393 G A 0 0 1 0 0 0 1 Positive
AutG60ACTB - 7 5567705 A G 0 0 1 0 0 0 1 Positive
AutG54476RNF216 - 7 5740026 G A 0 0 1 0 0 0 1
AutG54476RNF216 - 7 5752394 C T 0 0 1 0 0 0 1 Positive
AutG221955DAGLB - 7 6449422 A G 0 0 1 0 0 0 1
AutG11014KDELR2 - 7 6505719 TAGA T 0 0 1 0 0 0 1
AutG392862GRID2IP - 7 6550619 T TG 0 0 1 0 0 0 1
AutG79034C7orf26 - 7 6639797 C T 0 0 1 0 0 0 1
AutG340267COL28A1 - 7 7514248 G C 0 0 1 0 0 0 1
AutG30010NXPH1 - 7 8739033 A G 0 0 1 0 0 0 1
AutG30010NXPH1 - 7 8790890 A G 0 0 1 0 0 0 1 Positive
AutG2115ETV1 - 7 13978754 A G 0 0 1 0 0 0 1 Positive
AutG2115ETV1 - 7 14025837 C T 0 0 1 0 0 0 1
AutG2115ETV1 - 7 14041163 C T 0 0 1 0 0 0 1
AutGAGMO - 7 15470670 G A 0 0 1 0 0 0 1 Positive
AutG23161SNX13 - 7 17843170 T C 0 0 1 0 0 0 1 Positive
AutG9734HDAC9 - 7 18212148 C T 0 0 1 0 0 0 1
AutG9734HDAC9 - 7 18885284 A G 0 0 1 0 0 0 1

Page Counts: 364/584  
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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