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
AutG10343PKDREJ - 22 46652879 T C 0 0 2 0 0 0 2 Positive
AutG6305SBF1 - 22 50898487 C T 0 0 2 0 0 0 2
AutG6305SBF1 - 22 50899030 T Y 0 0 2 0 0 0 2
AutG55209SETD5 - 3 9486949 G A 0 0 2 0 0 0 2
AutG6529SLC6A1 - 3 11067982 T C 0 0 2 0 0 0 2 Positive
AutG25924MYRIP - 3 40085652 C T 0 0 2 0 0 0 2
AutG1499CTNNB1 - 3 41275757 C Y 0 0 2 0 0 0 2
AutG29072SETD2 - 3 47164140 T C 0 0 2 0 0 0 2
AutG6599SMARCC1 - 3 47702879 T C 0 0 2 0 0 0 2
AutG4134MAP4 - 3 47957453 T C 0 0 2 0 0 0 2
AutG1294COL7A1 - 3 48621941 G A 0 0 2 0 0 0 2
AutG3615IMPDH2 - 3 49064457 C G 0 0 2 0 0 0 2
AutG54870QRICH1 - 3 49114314 TG T 0 0 2 0 0 0 2
AutG1605DAG1 - 3 49570115 C T 0 0 2 0 0 0 2
AutG11188NISCH - 3 52492846 C G 0 0 2 0 0 0 2
AutG8618CADPS - 3 62543117 C T 0 0 2 0 0 0 2
AutG10402ST3GAL6 - 3 98510684 G C 0 0 2 0 0 0 2
AutG9515STXBP5L - 3 120628487 G A 0 0 2 0 0 0 2
AutG111ADCY5 - 3 123046605 G R 0 0 2 0 0 0 2
AutG4171MCM2 - 3 127327353 C T 0 0 2 0 0 0 2

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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