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
AutG7060THBS4rs404375 5 79348759 G A 2 0 0 0 0 0 2 Negative
rs4078417 1 51756882 A A 2 0 0 0 0 0 2 Positive
rs4078830 1 82546542 G A 2 0 0 0 0 0 2 Negative
AutG140733MACROD2rs4141463 2 14747471 T C 2 0 0 0 0 0 2 Positive
AutG9013TAF1Crs4150167 1 84213684 C A 2 0 0 0 0 0 2 Positive
rs4284229 1 38850304 A A 2 0 0 0 0 0 2 Positive
AutG1007CDH9rs4307059 5 25967703 T C 2 0 0 0 0 0 2 Positive
AutG1008CDH10rs4327572 5 25972821 C C 2 0 0 0 0 0 2 Positive
AutG83696TRAPPC9rs4358783 8 141011636 A A 2 0 0 0 0 0 2 Negative
rs4599356 4 145123453 A A 2 0 0 0 0 0 2 Negative
rs4703129 5 97888736 C A 2 0 0 0 0 0 2 Positive
AutG91584PLXNA4rs4731863 - - - - 2 0 0 0 0 0 2 Negative
rs4742408 9 7773723 C A 2 0 0 0 0 0 2 Positive
AutG5789PTPRDrs4742409 9 7774180 A A 2 0 0 0 0 0 2 Negative
AutG221061FAM171A1rs4750628 1 15391182 G A 2 0 0 0 0 0 2 Negative
AutG79811SLTMrs4775101 1 59218094 C C 2 0 0 0 0 0 2 Negative
AutG7040TGFB1rs4803455 1 41851509 C A 2 0 0 0 0 0 2 Negative
rs595191 - - - - 2 0 0 0 0 0 2 Negative
AutG9675TTI1rs6022419 2 36650065 A A 2 0 0 0 0 0 2 Negative
AutG23179RGL1rs6424904 - - - - 2 0 0 0 0 0 2 Negative

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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