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
AutG339568LOC339568 - 20 38053649 T C 0 0 1 0 0 0 1
AutG339568LOC339568 - 20 38202108 T G 0 0 1 0 0 0 1
AutG339568LOC339568 - 20 38439922 C A 0 0 1 0 0 0 1
AutG7150TOP1 - 20 39742794 G A 0 0 1 0 0 0 1
AutG5335PLCG1 - 20 39791805 G GT 0 0 1 0 0 0 1
AutG64900LPIN3 - 20 39977381 C A 0 0 1 0 0 0 1
AutG90187EMILIN3 - 20 39991214 A G 0 0 1 0 0 0 1 Positive
AutG84181CHD6 - 20 40143580 C T 0 0 1 0 0 0 1 Positive
AutG11122PTPRT - 20 41385165 G A 0 0 1 0 0 0 1 Positive
AutG11122PTPRT - 20 42082225 C T 0 0 1 0 0 0 1
AutG6431SRSF6 - 20 42089673 A T 0 0 1 0 0 0 1
AutG26013L3MBTL1 - 20 42169759 T G 0 0 1 0 0 0 1 Positive
AutG4605MYBL2 - 20 42343883 TG T 0 0 1 0 0 0 1
AutG51526C20orf111 - 20 42825855 GA - 0 0 1 0 0 0 1
AutG51526C20orf111 - 20 42825855 TGA T 0 0 1 0 0 0 1
AutG80336PABPC1L - 20 43545506 G A 0 0 1 0 0 0 1 Positive
AutG6406SEMG1 - 20 43837010 C T 0 0 1 0 0 0 1
AutG6407SEMG2 - 20 43851703 G A 0 0 1 0 0 0 1
AutG8785MATN4 - 20 43926652 G A 0 0 1 0 0 0 1
AutG11317RBPJL - 20 43942709 G A 0 0 1 0 0 0 1

Page Counts: 295/584  
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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