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
AutG284759SIRPB2 - 20 1459226 AC A 0 0 1 0 0 0 1
AutG7053TGM3 - 20 2291665 G A 0 0 1 0 0 0 1 Positive
AutG7053TGM3 - 20 2321207 T C 0 0 1 0 0 0 1
AutG25943C20orf194 - 20 3236780 TG T 0 0 1 0 0 0 1
AutG8455ATRN - 20 3452126 GT GTT 0 0 1 0 0 0 1
AutG8455ATRN - 20 3575148 G A 0 0 1 0 0 0 1
AutG80332ADAM33 - 20 3655475 G R 0 0 1 0 0 0 1
AutG6614SIGLEC1 - 20 3673614 G A 0 0 1 0 0 0 1 Positive
AutG6614SIGLEC1 - 20 3675396 G A 0 0 1 0 0 0 1
AutG116835HSPA12B - 20 3729976 A G 0 0 1 0 0 0 1
AutG80025PANK2 - 20 3891360 A G 0 0 1 0 0 0 1 Positive
AutG146ADRA1D - 20 4308616 G A 0 0 1 0 0 0 1
AutG5621PRNP - 20 4680118 T C 0 0 1 0 0 0 1
AutG84515MCM8 - 20 5933079 C T 0 0 1 0 0 0 1
AutG55612FERMT1 - 20 6064737 G C 0 0 1 0 0 0 1 Positive
AutG23236PLCB1 - 20 8337232 C T 0 0 1 0 0 0 1
AutG63926ANKRD5 - 20 10019040 C G 0 0 1 0 0 0 1
AutG182JAG1 - 20 10653553 C T 0 0 1 0 0 0 1
AutG51575ESF1 - 20 13750531 A AG 0 0 1 0 0 0 1
AutG23767FLRT3 - 20 14306852 G A 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