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
AutG127602DNAH14rs6426062 - - - - 0 1 0 0 0 0 1 Negative
-rs6426083 - - - - 0 1 0 0 0 0 1 Negative
AutG80232WDR26rs6426121 - - - - 0 1 0 0 0 0 1 Negative
AutG8604SLC25A12rs6433317 2 172745781 T C 0 1 0 0 0 0 1 Negative
AutG10651MTX2rs6433582 2 177176108 T G 0 1 0 0 0 0 1 Negative
AutG3685ITGAVrs6434188 2 187449871 C C 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs6443546 3 178284891 C C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs6443569 3 178446068 C C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs6443590 3 178569927 C C 0 1 0 0 0 0 1 Positive
AutG5290PIK3CArs6443623 3 178861166 T C 0 1 0 0 0 0 1 Negative
AutG5290PIK3CArs6443624 3 178897674 C A 0 1 0 0 0 0 1 Negative
AutG59345GNB4rs6443647 3 179129655 A A 0 1 0 0 0 0 1 Positive
AutG170572HTR3Crs6443938 3 183793454 T A 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs6445122 3 173555343 T C 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs6445128 3 173634534 T C 0 1 0 0 0 0 1 Positive
AutG952CD38rs6449182 4 15780453 C C 0 1 0 0 0 0 1 Negative
AutG952CD38rs6449197 4 15814922 C C 0 1 0 0 0 0 1 Negative
AutG2020EN2rs6460013 - - - - 0 1 0 0 0 0 1 Positive
AutG2146EZH2rs6464926 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs6465944 - - - - 0 1 0 0 0 0 1 Negative

Page Counts: 62/584  
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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