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
AutG9690UBE3C - 7 157348353 C - 0 0 1 0 0 0 1
AutG9690UBE3C - 7 157356883 T - 0 0 1 0 0 0 1
AutG5799PTPRN2 - 7 157959743 C T 0 0 1 0 0 0 1
AutG169270ZNF596 - 8 196337 A C 0 0 1 0 0 0 1
AutG169270ZNF596 - 8 306648 A G 0 0 1 0 0 0 1
AutG157697ERICH1 - 8 618638 A G 0 0 1 0 0 0 1
AutG9228DLGAP2 - 8 1497496 A G 0 0 1 0 0 0 1
AutG9639ARHGEF10 - 8 1806141 A G 0 0 1 0 0 0 1
AutG9639ARHGEF10 - 8 1877564 G A 0 0 1 0 0 0 1 Positive
AutG64478CSMD1 - 8 2954369 A G 0 0 1 0 0 0 1
AutG64478CSMD1 - 8 2965314 T C 0 0 1 0 0 0 1
AutG64478CSMD1 - 8 3265577 C T 0 0 1 0 0 0 1
AutG64478CSMD1 - 8 3282096 A G 0 0 1 0 0 0 1
AutG64478CSMD1 - 8 3885234 G T 0 0 1 0 0 0 1
AutG64478CSMD1 - 8 3905289 G C 0 0 1 0 0 0 1
AutG64478CSMD1 - 8 4128797 G T 0 0 1 0 0 0 1
AutG64478CSMD1 - 8 5227922 T A 0 0 1 0 0 0 1
AutG64478CSMD1 - 8 5644364 A T 0 0 1 0 0 0 1
AutG64478CSMD1 - 8 5903506 A T 0 0 1 0 0 0 1
AutG79648MCPH1 - 8 6272346 A G 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