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
AutG9962SLC23A2rs6053022 2 4973456 A A 1 0 0 0 0 0 1 Positive
AutG140733MACROD2rs6074787 2 14723009 G A 1 0 0 0 0 0 1 Positive
AutG140733MACROD2rs6074798 2 14761710 G A 1 0 0 0 0 0 1 Positive
AutG140733MACROD2rs6079536 2 14696882 A A 1 0 0 0 0 0 1 Positive
AutG140733MACROD2rs6079537 2 14697386 A A 1 0 0 0 0 0 1 Positive
AutG140733MACROD2rs6079540 2 14705888 A A 1 0 0 0 0 0 1 Positive
AutG140733MACROD2rs6079544 2 14714457 C C 1 0 0 0 0 0 1 Positive
AutG140733MACROD2rs6079553 2 14732606 C C 1 0 0 0 0 0 1 Positive
AutG216ALDH1A1rs610529 - - - - 1 0 0 0 0 0 1 Positive
AutG140733MACROD2rs6110458 2 14862972 C C 1 0 0 0 0 0 1 Positive
AutG64405CDH22rs6131030 2 44807986 G A 1 0 0 0 0 0 1 Positive
rs621966 3 42495350 T A 1 0 0 0 0 0 1 Negative
AutG81551STMN4rs62503729 8 27083792 A A 1 0 0 0 0 0 1 Positive
rs637644 1 62898666 A C 1 0 0 0 0 0 1 Positive
rs6424674 1 80274846 G A 1 0 0 0 0 0 1 Positive
AutG3431SP110rs6436915 2 231034524 G G 1 0 0 0 0 0 1 Positive
rs6452304 5 25924228 T C 1 0 0 0 0 0 1 Positive
rs6452305 5 25924622 A A 1 0 0 0 0 0 1 Positive
rs6535616 4 149404430 G C 1 0 0 0 0 0 1 Negative
rs6547647 2 86155271 C C 1 0 0 0 0 0 1 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