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
AutG23098SARM1 - 17 26722930 G A 0 0 1 0 0 0 1
AutG23098SARM1 - 17 26722931 T A 0 0 1 0 0 0 1
AutG23098SARM1 - 17 26722933 A T 0 0 1 0 0 0 1
AutG8456FOXN1 - 17 26851543 C T 0 0 1 0 0 0 1
AutG9703KIAA0100 - 17 26961045 G R 0 0 1 0 0 0 1
AutG9703KIAA0100 - 17 26961787 G A 0 0 1 0 0 0 1
AutG6830SUPT6H - 17 27003318 A G 0 0 1 0 0 0 1
AutG284086NEK8 - 17 27064851 C T 0 0 1 0 0 0 1
AutG57649PHF12 - 17 27244344 AGGGGGG AGGGGGGG 0 0 1 0 0 0 1
AutG57551TAOK1 - 17 27802725 AAAG A 0 0 1 0 0 0 1
AutG124930ANKRD13B - 17 27938657 A T 0 0 1 0 0 0 1 Positive
AutG85464SSH2 - 17 27982695 GAGA G 0 0 1 0 0 0 1
AutG6532SLC6A4 - 17 28530282 T C 0 0 1 0 0 0 1
AutG79915ATAD5 - 17 29167645 C G 0 0 1 0 0 0 1
AutGTEFM - 17 29227516 C T 0 0 1 0 0 0 1
AutG4763NF1 - 17 29676099 TCTTA T 0 0 1 0 0 0 1
AutG4763NF1 - 17 29677317 C M 0 0 1 0 0 0 1
AutG55813UTP6 - 17 30211462 G A 0 0 1 0 0 0 1
AutG4642MYO1D - 17 31039179 G T 0 0 1 0 0 0 1 Positive
AutG4642MYO1D - 17 31087364 G A 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