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
AutG26160IFT172 - 2 27684231 G C 0 0 0 0 1 0 1
AutG79623GALNT14 - 2 31298504 G A 0 0 0 0 1 0 1
AutG57448BIRC6 - 2 32730150 G C 0 0 0 0 1 0 1 Positive
AutG100288911LOC100288911 - 2 36567234 C T 0 0 0 0 1 0 1
AutG51232CRIM1 - 2 36616474 A G 0 0 0 0 1 0 1
AutG51232CRIM1 - 2 36616507 A G 0 0 0 0 1 0 1
AutG391365SULT6B1 - 2 37398632 G C 0 0 0 0 1 0 1
AutG130589GALM - 2 38956836 C G 0 0 0 0 1 0 1
AutG55133SRBD1 - 2 45780792 T G 0 0 0 0 1 0 1
AutG9378NRXN1 - 2 50280477 - - 0 0 0 0 1 0 1
AutG9378NRXN1 - 2 50765412 G T 0 0 0 0 1 0 1
AutG9378NRXN1 - 2 51255371 G A 0 0 0 0 1 0 1
AutGLINC01122 - 2 59179256 T G 0 0 0 0 1 0 1
AutGLINC01122 - 2 59179294 C T 0 0 0 0 1 0 1
AutGLINC01122 - 2 59179868 A G 0 0 0 0 1 0 1
AutG100616473MIR4432 - 2 60516727 C T 0 0 0 0 1 0 1
AutG53335BCL11A - 2 60688221 G - 0 0 0 0 1 0 1
AutG53335BCL11A - 2 60773435 G A 0 0 0 0 1 0 1
AutG23177CEP68 - 2 65299420 T C 0 0 0 0 1 0 1
AutGLOC101927577 - 2 66927885 AA - 0 0 0 0 1 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