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
AutG10785WDR4 - 21 44270292 G R 0 0 1 0 0 0 1
AutG10785WDR4 - 21 44272360 C T 0 0 1 0 0 0 1
AutG4731NDUFV3 - 21 44323370 C T 0 0 1 0 0 0 1
AutG150094SIK1 - 21 44839867 A T 0 0 1 0 0 0 1 Positive
AutG150094SIK1 - 21 44840121 G A 0 0 1 0 0 0 1 Positive
AutG5211PFKL - 21 45742909 C CT 0 0 1 0 0 0 1
AutG755C21orf2 - 21 45750792 G A 0 0 1 0 0 0 1
AutG7226TRPM2 - 21 45820197 G A 0 0 1 0 0 0 1 Positive
AutG386679KRTAP10-2 - 21 45971357 A C 0 0 1 0 0 0 1
AutG386680KRTAP10-5 - 21 46000044 G A 0 0 1 0 0 0 1
AutG386680KRTAP10-5 - 21 46000045 C T 0 0 1 0 0 0 1
AutG386678KRTAP10-11 - 21 46066486 C T 0 0 1 0 0 0 1
AutG3689ITGB2 - 21 46311861 C T 0 0 1 0 0 0 1
AutG642852LOC642852 - 21 46714226 C T 0 0 1 0 0 0 1
AutG642852LOC642852 - 21 46714389 G T 0 0 1 0 0 0 1
AutG642852LOC642852 - 21 46714390 A T 0 0 1 0 0 0 1
AutG4047LSS - 21 47641795 G A 0 0 1 0 0 0 1
AutG5116PCNT - 21 47754471 G A 0 0 1 0 0 0 1
AutG5116PCT - 21 47831556 C T 0 0 1 0 0 0 1
AutG5116PCNT - 21 47860001 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