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
AutG813CALU - 7 128379486 G T 0 0 1 0 0 0 1
AutG2318FLNC - 7 128478444 G T 0 0 1 0 0 0 1 Positive
AutG375616KCP - 7 128547390 G A 0 0 1 0 0 0 1
AutG23534TNPO3 - 7 128610260 G C 0 0 1 0 0 0 1 Positive
AutG23534TNPO3 - 7 128622321 G A 0 0 1 0 0 0 1
AutG6608SMO - 7 128851858 - - 0 0 1 0 0 0 1
AutG23382AHCYL2 - 7 129008378 A G 0 0 1 0 0 0 1
AutGSTRIP2 - 7 129094327 G A 0 0 1 0 0 0 1
AutG57464FAM40B - 7 129125422 A T 0 0 1 0 0 0 1
AutG23008KLHDC10 - 7 129736794 G A 0 0 1 0 0 0 1 Positive
AutG51200CPA4 - 7 129938587 G T 0 0 1 0 0 0 1
AutG1357CPA1 - 7 130025065 T C 0 0 1 0 0 0 1 Positive
AutG378805FLJ43663 - 7 130784694 A G 0 0 1 0 0 0 1
AutG60412EXOC4 - 7 133689775 A G 0 0 1 0 0 0 1 Positive
AutG136332LRGUK - 7 133827810 C T 0 0 1 0 0 0 1
AutG136332LRGUK - 7 133842813 - - 0 0 1 0 0 0 1
AutG346673STRA8 - 7 134936580 C T 0 0 1 0 0 0 1
AutG346673STRA8 - 7 135041348 C T 0 0 1 0 0 0 1
AutG4850CNOT4 - 7 135122938 C Y 0 0 1 0 0 0 1
AutG23165NUP205 - 7 135277850 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