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
AutG203062TSNARE1 - 8 143425442 G A 0 0 1 0 0 0 1
AutG203062TSNARE1 - 8 143516796 C T 0 0 1 0 0 0 1
AutG575BAI1 - 8 143592361 A G 0 0 1 0 0 0 1
AutG575BAI1 - 8 143604104 C T 0 0 1 0 0 0 1
AutG8000PSCA - 8 143762748 C G 0 0 1 0 0 0 1
AutG137797LYPD2 - 8 143831747 TGGAG T 0 0 1 0 0 0 1
AutG286122C8orf31 - 8 144126055 TC T 0 0 1 0 0 0 1
AutG116447TOP1MT - 8 144397947 C T 0 0 1 0 0 0 1
AutG93100NAPRT1 - 8 144659231 C T 0 0 1 0 0 0 1
AutG1936EEF1D - 8 144662544 C T 0 0 1 0 0 0 1
AutG1936EEF1D - 8 144671357 G A 0 0 1 0 0 0 1
AutG1936EEF1D - 8 144671359 G A 0 0 1 0 0 0 1
AutG9831ZNF623 - 8 144749682 C T 0 0 1 0 0 0 1
AutG22827PUF60 - 8 144899878 G A 0 0 1 0 0 0 1
AutG5339PLEC - 8 144995036 C G 0 0 1 0 0 0 1
AutG5339PLEC - 8 144998708 G A 0 0 1 0 0 0 1 Positive
AutG84875PARP10 - 8 145059354 A G 0 0 1 0 0 0 1
AutG26873OPLAH - 8 145110038 C T 0 0 1 0 0 0 1 Positive
AutG26873OPLAH - 8 145114848 C Y 0 0 1 0 0 0 1
AutG8694DGAT1 - 8 145540331 G C 0 0 1 0 0 0 1 Positive

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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