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
AutG79843FAM124B - 2 225266192 G T 0 0 1 0 0 0 1
AutG8452CUL3 - 2 225370672 C A/C 0 0 1 0 0 0 1
AutG8452CUL3 - 2 225376218 C M 0 0 1 0 0 0 1
AutG8452CUL3 - 2 225378301 - CTTCG 0 0 1 0 0 0 1
AutG3667IRS1 - 2 227661674 C T 0 0 1 0 0 0 1
AutG3667IRS1 - 2 227662573 G A 0 0 1 0 0 0 1
AutG1286COL4A4 - 2 227872302 G A 0 0 1 0 0 0 1
AutGAK056332 - 2 228112254 A G 0 0 1 0 0 0 1
AutG55022PID1 - 2 230134173 A G 0 0 1 0 0 0 1
AutG92737DNER - 2 230425406 T C 0 0 1 0 0 0 1
AutG92737DNER - 2 230528243 T G 0 0 1 0 0 0 1
AutG9320TRIP12 - 2 230632431 - A 0 0 1 0 0 0 1
AutG9320TRIP12 - 2 230636299 G A 0 0 1 0 0 0 1 Positive
AutG9320TRIP12 - 2 230650558 C T 0 0 1 0 0 0 1 Positive
AutG9320TRIP12 - 2 230663998 C G 0 0 1 0 0 0 1
AutG9320TRIP12 - 2 230666966 AC A 0 0 1 0 0 0 1
AutG9320TRIP12 - 2 230667043 G A 0 0 1 0 0 0 1
AutG9320TRIP12 - 2 230668934 GA G 0 0 1 0 0 0 1
AutG9320TRIP12 - 2 230701696 G A 0 0 1 0 0 0 1
AutG9320TRIP12 - 2 230724181 G A/G 0 0 1 0 0 0 1

Page Counts: 289/584  
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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