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
AutG343406OR10R2 - 1 158450142 C T 0 0 0 0 1 0 1
AutG480ATP1A4 - 1 160143953 A T 0 0 0 0 1 0 1
AutG8703B4GALT3 - 1 161141673 C T 0 0 0 0 1 0 1
AutG8490RGS5 - 1 163207808 T - 0 0 0 0 1 0 1
AutG4259MGST3 - 1 165619079 C T 0 0 0 0 1 0 1
AutG5451POU2F1 - 1 167384806 C T 0 0 0 0 1 0 1
AutG374955SPATA21 - 1 16748407 G A 0 0 0 0 1 0 1
AutG29922NME7 - 1 169279204 A T 0 0 0 0 1 0 1
AutG51603METTL13 - 1 171759604 G A 0 0 0 0 1 0 1
AutG8995TNFSF18 - 1 173020010 G A 0 0 0 0 1 0 1
AutG6390SDHB - 1 17349179 C T 0 0 0 0 1 0 1 Positive
AutG51702PADI3 - 1 17596817 C T 0 0 0 0 1 0 1
AutGLOC101928778 - 1 177865179 C T 0 0 0 0 1 0 1
AutG57710KIAA1614 - 1 180905263 C T 0 0 0 0 1 0 1
AutG127670TEDDM1 - 1 182369374 T C 0 0 0 0 1 0 1
AutG3915LAMC1 - 1 183094556 C T 0 0 0 0 1 0 1
AutG4688NCF2 - 1 183556078 T C 0 0 0 0 1 0 1
AutG54953C1orf27 - 1 186368092 A C 0 0 0 0 1 0 1
AutG5081PAX7 - 1 18960904 C T 0 0 0 0 1 0 1
AutG23352UBR4 - 1 19439148 G 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