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
AutG2290FOXG1 - 14 29237631 C G 0 0 1 0 0 0 1
AutG2290FOXG1 - 14 29237726 C A 0 0 1 0 0 0 1
AutG1690COCH - 14 31359000 G A 0 0 1 0 0 0 1
AutG29966STRN3 - 14 31425374 C G 0 0 1 0 0 0 1
AutG25831HECTD1 - 14 31613330 G GT 0 0 1 0 0 0 1
AutG394ARHGAP5 - 14 32560858 A C 0 0 1 0 0 0 1 Positive
AutG64067NPAS3 - 14 33486057 C A 0 0 1 0 0 0 1
AutG64067NPAS3 - 14 34079788 A T 0 0 1 0 0 0 1
AutG64067NPAS3 - 14 34269619 C G 0 0 1 0 0 0 1
AutG112399EGLN3 - 14 34518927 C T 0 0 1 0 0 0 1
AutG11177BAZ1A - 14 35227958 T C 0 0 1 0 0 0 1
AutG11177BAZ1A - 14 35231162 A C 0 0 1 0 0 0 1
AutG283635FAM177A1 - 14 35548132 G A 0 0 1 0 0 0 1
AutG84684INSM2 - 14 36005002 G T 0 0 1 0 0 0 1
AutG253959RALGAPA1 - 14 36096327 TAAG T 0 0 1 0 0 0 1
AutG253959RALGAPA1 - 14 36133877 C T 0 0 1 0 0 0 1
AutG253959RALGAPA1 - 14 36133921 T G 0 0 1 0 0 0 1 Positive
AutG26257NKX2-8 - 14 37050458 G A 0 0 1 0 0 0 1
AutG161198CLEC14A - 14 39019414 G T 0 0 1 0 0 0 1
AutG10484SEC23A - 14 39514393 C T 0 0 1 0 0 0 1 Positive

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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