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
AutG100616353MIR4532 - 20 56491406 G C 0 0 1 0 0 0 1
AutG2778GNAS - 20 57484241 C S 0 0 1 0 0 0 1
AutG284757LOC284757 - 20 58967940 C T 0 0 1 0 0 0 1
AutG6874TAF4 - 20 60578326 AG A 0 0 1 0 0 0 1
AutG11047ADRM1 - 20 60883795 AGG A 0 0 1 0 0 0 1
AutGGID8 - 20 61572950 C T 0 0 1 0 0 0 1
AutG1137CHRNA4 - 20 61981908 G A 0 0 1 0 0 0 1
AutG3785KCNQ2 - 20 62038127 C CT 0 0 1 0 0 0 1
AutG3785KCNQ2 - 20 62070073 CCTGCAATTCATCAGGGTCAGGTCACA C 0 0 1 0 0 0 1
AutG1917EEF1A2 - 20 62120390 C T 0 0 1 0 0 0 1 Positive
AutGHELZ2 - 20 62194948 GCCC GCC 0 0 1 0 0 0 1
AutGHELZ2 - 20 62198437 G A 0 0 1 0 0 0 1
AutGRP4-697K14.7 - 20 62198612 G A 0 0 1 0 0 0 1
AutG84619ZGPAT - 20 62366534 C T 0 0 1 0 0 0 1 Positive
AutG56731SLC2A4RG - 20 62373543 G A 0 0 1 0 0 0 1
AutG140685ZBTB46 - 20 62421745 G A 0 0 1 0 0 0 1
AutG80331DNAJC5 - 20 62561664 G T 0 0 1 0 0 0 1
AutG24148PRPF6 - 20 62626801 C T 0 0 1 0 0 0 1 Positive
AutG24148PRPF6 - 20 62642793 C T 0 0 1 0 0 0 1
AutG4987OPRL1 - 20 62729390 C Y 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