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
AutG57521RPTOR - 17 78795992 G C 0 0 1 0 0 0 1
AutG10458BAIAP2 - 17 79060248 G A 0 0 1 0 0 0 1
AutG124565SLC38A10 - 17 79225309 C T 0 0 1 0 0 0 1
AutG83882TSPAN10 - 17 79612099 G T 0 0 1 0 0 0 1
AutG339230CCDC137 - 17 79635638 G A 0 0 1 0 0 0 1
AutG9146HGS - 17 79662878 C T 0 0 1 0 0 0 1
AutG348262FAM195B - 17 79782297 G A 0 0 1 0 0 0 1
AutG79058ASPSCR1 - 17 79954601 A T 0 0 1 0 0 0 1 Positive
AutG5881RAC3 - 17 79990682 G A 0 0 1 0 0 0 1 Positive
AutG2873GPS1 - 17 80014816 G R 0 0 1 0 0 0 1 Positive
AutG64118DUS1L - 17 80019814 CAG C 0 0 1 0 0 0 1
AutG64118DUS1L - 17 80020802 G R 0 0 1 0 0 0 1
AutG2194FASN - 17 80046097 T C 0 0 1 0 0 0 1 Positive
AutG2194FASN - 17 80046737 C G 0 0 1 0 0 0 1 Positive
AutG9123SLC16A3 - 17 80194100 C T 0 0 1 0 0 0 1
AutG3607FOXK2 - 17 80540643 G C 0 0 1 0 0 0 1
AutG3607FOXK2 - 17 80543909 C T 0 0 1 0 0 0 1 Positive
AutG3607FOXK2 - 17 80544976 G A 0 0 1 0 0 0 1
AutG79755ZNF750 - 17 80788018 T G 0 0 1 0 0 0 1
AutG79755ZNF750 - 17 80789793 C T 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