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
AutG64770CCDC14 - 3 123663756 A R 0 0 1 0 0 0 1
AutG8997KALRN - 3 124141039 ATATATGAGAG A 0 0 1 0 0 0 1
AutG8997KALRN - 3 124281800 C Y 0 0 1 0 0 0 1
AutG3693ITGB5 - 3 124560282 G A 0 0 1 0 0 0 1
AutG57493HEG1 - 3 124732039 G A 0 0 1 0 0 0 1
AutG10840ALDH1L1 - 3 125822675 T G 0 0 1 0 0 0 1
AutG28999KLF15 - 3 126071150 C G 0 0 1 0 0 0 1
AutG348807CCDC37 - 3 126114864 T C 0 0 1 0 0 0 1
AutG5361PLXNA1 - 3 126726747 C T 0 0 1 0 0 0 1
AutG5361PLXNA1 - 3 126730873 G A 0 0 1 0 0 0 1 Positive
AutG5361PLXNA1 - 3 126749110 G A 0 0 1 0 0 0 1 Positive
AutG166348KBTBD12 - 3 127703015 A G 0 0 1 0 0 0 1
AutG29927SEC61A1 - 3 127786872 G A 0 0 1 0 0 0 1 Positive
AutG8607RUVBL1 - 3 127806574 A W 0 0 1 0 0 0 1
AutG339122RAB43 - 3 128840285 A T 0 0 1 0 0 0 1
AutG55764IFT122 - 3 129185800 A G 0 0 1 0 0 0 1
AutG132243H1FOO - 3 129268116 GC G 0 0 1 0 0 0 1
AutG23129PLXND1 - 3 129289671 G A 0 0 1 0 0 0 1
AutG131870NUDT16 - 3 131100722 C G 0 0 1 0 0 0 1
AutG131034CPNE4 - 3 131574033 G T 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