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
AutG2048EPHB2 - 1 23233357 C T 0 0 1 0 0 0 1
AutG3339HSPG2 - 1 22181274 GGGTCA G 0 0 1 0 0 0 1
AutG3339HSPG2 - 1 22174444 C T 0 0 1 0 0 0 1
AutG5909RAP1GAP - 1 21929359 C T 0 0 1 0 0 0 1
AutG127733UBXN10 - 1 20517220 G A 0 0 1 0 0 0 1
AutG255104TMCO4 - 1 20009872 G C 0 0 1 0 0 0 1
AutG23352UBR4 - 1 19528292 T G 0 0 1 0 0 0 1
AutG23352UBR4 - 1 19481533 C T 0 0 1 0 0 0 1
AutG23352UBR4 - 1 19453084 G A 0 0 1 0 0 0 1
AutG23352UBR4 - 1 19446711 G A 0 0 1 0 0 0 1 Positive
AutG23352UBR4 - 1 19403354 G C 0 0 1 0 0 0 1 Positive
AutG126917IFFO2 - 1 19315132 G A 0 0 1 0 0 0 1
AutG80834TAS1R2 - 1 19166809 G T 0 0 1 0 0 0 1
AutG55160ARHGEF10L - 1 17964465 G A 0 0 1 0 0 0 1
AutG55160ARHGEF10L - 1 17907117 G K 0 0 1 0 0 0 1
AutG51702PADI3 - 1 17596738 T G 0 0 1 0 0 0 1
AutG29943PADI1 - 1 17531782 G A 0 0 1 0 0 0 1 Positive
AutG9696CROCC - 1 17272061 T C 0 0 1 0 0 0 1 Positive
AutG9696CROCC - 1 17263235 G A 0 0 1 0 0 0 1
AutG9696CROCC - 1 17250836 A G 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