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
AutG373TRIM23 - 5 64887621 G A 0 0 1 0 0 0 1 Positive
AutG373TRIM23 - 5 64892348 T - 0 0 1 0 0 0 1
AutG373TRIM23 - 5 64892877 C T 0 0 1 0 0 0 1
AutG55914ERBB2IP - 5 65338903 A T 0 0 1 0 0 0 1
AutG375449MAST4 - 5 66400357 G C 0 0 1 0 0 0 1 Positive
AutG64924SLC30A5 - 5 68417634 - - 0 0 1 0 0 0 1 Positive
AutG64924SLC30A5 - 5 68417634 C G 0 0 1 0 0 0 1 Positive
AutG891CCNB1 - 5 68471298 T C 0 0 1 0 0 0 1
AutG202243CCDC125 - 5 68578753 ATTTTTTT ATTTTTT 0 0 1 0 0 0 1
AutG64087MCCC2 - 5 70900233 C G 0 0 1 0 0 0 1 Positive
AutG4131MAP1B - 5 71491094 G T 0 0 1 0 0 0 1 Positive
AutG4131MAP1B - 5 71494926 C T 0 0 1 0 0 0 1 Positive
AutGARHGEF28 - 5 73144882 C T 0 0 1 0 0 0 1
AutG84340GFM2 - 5 74017586 G T 0 0 1 0 0 0 1 Positive
AutG26049FAM169A - 5 74130375 AATTC A 0 0 1 0 0 0 1
AutG256006ANKRD31 - 5 74598009 A G 0 0 1 0 0 0 1
AutG10087COL4A3BP - 5 74675192 T C 0 0 1 0 0 0 1
AutG10087COL4A3BP - 5 74721237 A G 0 0 1 0 0 0 1
AutG10087COL4A3BP - 5 74793289 T C 0 0 1 0 0 0 1
AutG10087COL4A3BP - 5 74801861 A C 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