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
AutG23362PSD3rs2632839 8 18674701 C A 1 0 0 0 0 0 1 Negative
AutG23362PSD3rs2638610 8 18674835 G A 1 0 0 0 0 0 1 Negative
rs2799644 6 96358162 A C 1 0 0 0 0 0 1 Positive
rs2830200 2 27777778 T C 1 0 0 0 0 0 1 Negative
AutG2078ERGrs2836439 2 39865150 C C 1 0 0 0 0 0 1 Positive
rs2846419 1 108475820 A C 1 0 0 0 0 0 1 Negative
AutGNoners288604 1 62672612 G A 1 0 0 0 0 0 1 Positive
AutGNoners289858 2 152052326 G A 1 0 0 0 0 0 1 Positive
AutG10237SLC35B1rs2898883 - - - - 1 0 0 0 0 0 1 Positive
AutGNoners289932 2 152006025 C C 1 0 0 0 0 0 1 Positive
AutGNoners29456 5 65539847 T A 1 0 0 0 0 0 1 Positive
AutG3937LCP2rs315717 - - - - 1 0 0 0 0 0 1 Positive
rs320813 - - - - 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs34759235 8 27071936 G G 1 0 0 0 0 0 1 Positive
rs350436 5 51896454 A C 1 0 0 0 0 0 1 Positive
AutGNoners351871 5 76976039 A A 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs35240189 8 27079834 G G 1 0 0 0 0 0 1 Positive
AutG3431SP110rs3731723 2 231030554 T C 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs3739213 8 27100014 G A 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs3739214 8 27101279 C C 1 0 0 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