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
AutG4926NUMA1 - 11 71727496 G T 0 0 1 0 0 0 1
AutG4926NUMA1 - 11 71726076 C T 0 0 1 0 0 0 1
AutG22941SHANK2 - 11 71103739 A C 0 0 1 0 0 0 1
AutG22941SHANK2 - 11 70858273 A C 0 0 1 0 0 0 1
AutG22941SHANK2 - 11 70336411 G A 0 0 1 0 0 0 1
AutG22941SHANK2 - 11 70336410 G A 0 0 1 0 0 0 1
AutG22941SHANK2 - 11 70332092 * D:TG 0 0 1 0 0 0 1
AutG8500PPFIA1 - 11 70194448 G A 0 0 1 0 0 0 1
AutG8500PPFIA1 - 11 70178154 C T 0 0 1 0 0 0 1 Positive
AutG8500PPFIA1 - 11 70176336 C T 0 0 1 0 0 0 1 Positive
AutG4041LRP5 - 11 68201226 G A 0 0 1 0 0 0 1 Positive
AutG4041LRP5 - 11 68181294 C T 0 0 1 0 0 0 1
AutG53838C11orf24 - 11 68029416 AGTCTCTACCT A 0 0 1 0 0 0 1
AutG51111SUV420H1 - 11 67941366 CAAAT C 0 0 1 0 0 0 1
AutGKMT5B - 11 67939104 - G 0 0 1 0 0 0 1
AutGKMT5B - 11 67939085 - T 0 0 1 0 0 0 1
AutG51111SUV420H1 - 11 67939039 C G 0 0 1 0 0 0 1 Positive
AutGKMT5B - 11 67926254 - T 0 0 1 0 0 0 1
AutG51111SUV420H1 - 11 67926063 AGGAGCTGGCTGCAGCTGTTCACCACTGTCGGGGCAAGGTTCCGTCACACTGCTTTTATAGCCATTCAACGTATTTG A 0 0 1 0 0 0 1
AutG51111SUV420H1 - 11 67925466 G 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