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
AutGCEP128 - 14 81413266 G A 0 0 1 0 0 0 1
AutG23768FLRT2 - 14 86089107 GT G 0 0 1 0 0 0 1
AutG23768FLRT2 - 14 86679029 G C 0 0 1 0 0 0 1
AutG2581GALC - 14 88407884 C Y 0 0 1 0 0 0 1
AutG2581GALC - 14 88442767 G A 0 0 1 0 0 0 1
AutG54207KCNK10 - 14 88652413 C T 0 0 1 0 0 0 1
AutG79882ZC3H14 - 14 89034439 C T 0 0 1 0 0 0 1
AutG161436EML5 - 14 89154652 T C 0 0 1 0 0 0 1 Positive
AutG1112FOXN3 - 14 89853769 A C 0 0 1 0 0 0 1
AutGEFCAB11 - 14 90420964 TCCCACG T 0 0 1 0 0 0 1
AutG5700PSMC1 - 14 90733677 T A 0 0 1 0 0 0 1
AutG440193CCDC88C - 14 91744403 G C 0 0 1 0 0 0 1
AutG440193CCDC88C - 14 91766302 C T 0 0 1 0 0 0 1 Positive
AutG10516FBLN5 - 14 92403413 G C 0 0 1 0 0 0 1
AutG9321TRIP11 - 14 92470325 CT C 0 0 1 0 0 0 1
AutG9321TRIP11 - 14 92470327 T - 0 0 1 0 0 0 1
AutG53981CPSF2 - 14 92600459 A G 0 0 1 0 0 0 1 Positive
AutG79890RIN3 - 14 93118106 A G 0 0 1 0 0 0 1
AutG26175C14orf109 - 14 93653012 C T 0 0 1 0 0 0 1
AutGUNC79 - 14 94088799 AC A 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