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
AutG23181DIP2A - 21 47976938 C T 0 0 1 0 0 0 1
AutG3275PRMT2 - 21 48068399 CCAC CCACAC 0 0 1 0 0 0 1
AutG6305SBF1 - 22 0 G - 0 0 1 0 0 0 1
AutG6305SBF1 - 22 0 T - 0 0 1 0 0 0 1
AutG23784POTEH - 22 16287579 A AG 0 0 1 0 0 0 1
AutG128954GAB4 - 22 17469020 G A 0 0 1 0 0 0 1
AutG27443CECR2 - 22 18018792 T A 0 0 1 0 0 0 1
AutG637BID - 22 18241016 C T 0 0 1 0 0 0 1
AutG57553MICAL3 - 22 18387403 - - 0 0 1 0 0 0 1 Positive
AutG11274USP18 - 22 18650710 C T 0 0 1 0 0 0 1
AutG23617TSSK2 - 22 19119619 C T 0 0 1 0 0 0 1 Positive
AutG8220DGCR14 - 22 19127459 T C 0 0 1 0 0 0 1 Positive
AutG7290HIRA - 22 19341564 A G 0 0 1 0 0 0 1
AutG5413SEPT5 - 22 19707757 G A 0 0 1 0 0 0 1
AutG421ARVCF - 22 19965564 G A 0 0 1 0 0 0 1
AutG406961MIR185 - 22 20020667 G A 0 0 1 0 0 0 1
AutGTAGO2 - 22 20050958 G A 0 0 1 0 0 0 1
AutG54487DGCR8 - 22 20074137 C Y 0 0 1 0 0 0 1
AutG54487DGCR8 - 22 20074157 CG C 0 0 1 0 0 0 1
AutG29801ZDHHC8 - 22 20130777 G A 0 0 1 0 0 0 1 Positive

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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