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
AutG64800EFCAB6 - 22 44004465 C T 0 0 0 0 1 0 1
AutG9620CELSR1 - 22 46805736 C G 0 0 0 0 1 0 1
AutG1375CPT1B - 22 51015372 C A 0 0 0 0 1 0 1
AutG2747GLUD2 - 23 120181950 C T 0 0 0 0 1 0 1
AutG286464CXorf59 - 23 36091379 A C 0 0 0 0 1 0 1
AutG6853SYN1 - 23 47466545 C T 0 0 0 0 1 0 1
AutG25890ABI3BP - 3 100585792 C T 0 0 0 0 1 0 1
AutG27255CNTN6 - 3 1008060 G T 0 0 0 0 1 0 1
AutG27255CNTN6 - 3 1008063 - A 0 0 0 0 1 0 1
AutG2177FANCD2 - 3 10115047 G A 0 0 0 0 1 0 1
AutG3656IRAK2 - 3 10219567 C A 0 0 0 0 1 0 1
AutG54762GRAMD1C - 3 113652385 C T 0 0 0 0 1 0 1
AutG26137ZBTB20 - 3 114135662 C T 0 0 0 0 1 0 1
AutG26137ZBTB20 - 3 114247067 C - 0 0 0 0 1 0 1
AutG4045LSAMP - 3 115905523 C T 0 0 0 0 1 0 1
AutGLINC00901 - 3 117477509 G - 0 0 0 0 1 0 1
AutG51725FBXO40 - 3 121340955 G A 0 0 0 0 1 0 1
AutG9657IQCB1 - 3 121500697 G A 0 0 0 0 1 0 1
AutG111ADCY5 - 3 121683740 * -T/* 0 0 0 0 1 0 1 Positive
AutG6184RPN1 - 3 128344444 T C 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