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
AutG9135RABEP1 - 17 5284689 C T 0 0 1 0 0 0 1
AutG22861NLRP1 - 17 5456733 C T 0 0 1 0 0 0 1
AutG22861NLRP1 - 17 5486032 C T 0 0 1 0 0 0 1
AutG83394PITPNM3 - 17 6371601 T Y 0 0 1 0 0 0 1
AutG9851KIAA0753 - 17 6499494 C T 0 0 1 0 0 0 1 Positive
AutG284111SLC13A5 - 17 6596494 AG A 0 0 1 0 0 0 1
AutG83659TEKT1 - 17 6716262 G T 0 0 1 0 0 0 1
AutG239ALOX12 - 17 6913580 C A 0 0 1 0 0 0 1 Positive
AutG1742DLG4 - 17 7121959 - G 0 0 1 0 0 0 1
AutG79142PHF23 - 17 7140735 CCAAAACAAAAC CCAAAAC 0 0 1 0 0 0 1
AutG57555NLGN2 - 17 7318418 C T 0 0 1 0 0 0 1 Positive
AutG57555NLGN2 - 17 7319134 C T 0 0 1 0 0 0 1 Positive
AutG57659ZBTB4 - 17 7369185 C T 0 0 1 0 0 0 1
AutG5430POLR2A - 17 7388093 G T 0 0 1 0 0 0 1 Positive
AutG146754DNAH2 - 17 7627294 A G 0 0 1 0 0 0 1
AutG146754DNAH2 - 17 7660448 G A 0 0 1 0 0 0 1
AutG146754DNAH2 - 17 7664160 G A 0 0 1 0 0 0 1
AutG146754DNAH2 - 17 7671509 A T 0 0 1 0 0 0 1
AutG146754DNAH2 - 17 7699902 G A 0 0 1 0 0 0 1
AutG146754DNAH2 - 17 7720741 G A 0 0 1 0 0 0 1

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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