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
AutG8841HDAC3 - 5 141009384 A AC 0 0 1 0 0 0 1
AutG10007GNPDA1 - 5 141384600 A G 0 0 1 0 0 0 1
AutG57528KCTD16 - 5 143814440 C A 0 0 1 0 0 0 1
AutG153770PLAC8L1 - 5 145477815 G A 0 0 1 0 0 0 1
AutG54439RBM27 - 5 145603023 C T 0 0 1 0 0 0 1 Positive
AutG5459POU4F3 - 5 145719811 G C 0 0 1 0 0 0 1 Positive
AutG10915TCERG1 - 5 145890147 G A 0 0 1 0 0 0 1
AutG134391GPR151 - 5 145901235 C T 0 0 1 0 0 0 1
AutG134391GPR151 - 5 145905716 C A 0 0 1 0 0 0 1
AutG134391GPR151 - 5 145905719 G A 0 0 1 0 0 0 1
AutG134391GPR151 - 5 145960928 C T 0 0 1 0 0 0 1
AutG5521PPP2R2B - 5 146168472 A G 0 0 1 0 0 0 1
AutG1809DPYSL3 - 5 146804493 C T 0 0 1 0 0 0 1
AutG81545FBXO38 - 5 147821679 A G 0 0 1 0 0 0 1
AutG134265AFAP1L1 - 5 148681996 C CA 0 0 1 0 0 0 1
AutG5145PDE6A - 5 149323838 G C 0 0 1 0 0 0 1
AutG22993HMGXB3 - 5 149390017 C T 0 0 1 0 0 0 1
AutG6534SLC6A7 - 5 149584134 G A 0 0 1 0 0 0 1 Positive
AutG815CAMK2A - 5 149631595 T A 0 0 1 0 0 0 1 Positive
AutG6949TCOF1 - 5 149771544 C T 0 0 1 0 0 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