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
AutG123879DCUN1D3rs4783510 1 20897668 A A 0 1 0 0 0 0 1 Negative
AutG6530SLC6A2rs4783899 1 55687212 G G 0 1 0 0 0 0 1
AutG54715A2BP1rs4787048 1 7664102 G A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs4787651 1 24025666 C C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs4787676 1 24056886 G G 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs4787733 1 24097875 A A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs4788103 1 23996175 G A 0 1 0 0 0 0 1 Positive
AutG1845DUSP3rs4793026 1 41850508 A A 0 1 0 0 0 0 1 Positive
AutG55040EPN3rs4793661 1 48620517 G A 0 1 0 0 0 0 1 Positive
AutG26022TMEM98rs4795725 1 31272370 T G 0 1 0 0 0 0 1 Positive
AutG5307PITX1rs479632 - - - - 0 1 0 0 0 0 1 Positive
AutG7040TGFB1rs4803455 1 41851509 C A 0 1 0 0 0 0 1 Negative
AutG5020OXTrs4813625 2 3049720 G C 0 1 0 0 0 0 1 Positive
AutG8140SLC7A5rs4843713 1 87872844 A A 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs4846326 - - - - 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs4846657 - - - - 0 1 0 0 0 0 1 Positive
AutG59345GNB4rs4855077 3 179180153 G G 0 1 0 0 0 0 1 Positive
AutG5290PIK3CArs4855095 3 178878642 A A 0 1 0 0 0 0 1 Negative
AutG55740ENAHrs487591 - - - - 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs4887534 1 27234173 G C 0 1 0 0 0 0 1 Negative

Page Counts: 58/584  
58 First  Previous  57  58  59  Next  Last

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