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
AutG55326AGPAT5 - 8 6605326 G A 0 0 1 0 0 0 1
AutG90459ERI1 - 8 8873831 G A 0 0 1 0 0 0 1
AutG90459ERI1 - 8 8877895 G A 0 0 1 0 0 0 1 Positive
AutG8658TNKS - 8 9567627 T C 0 0 1 0 0 0 1
AutG8658TNKS - 8 9567684 G complex, S & intronic 0 0 1 0 0 0 1
AutG4482MSRA - 8 10285789 C T 0 0 1 0 0 0 1
AutG94137RP1L1 - 8 10464932 C G 0 0 1 0 0 0 1
AutG83595SOX7 - 8 10583692 - - 0 0 1 0 0 0 1
AutG83595SOX7 - 8 10583812 C T 0 0 1 0 0 0 1
AutG66036MTMR9 - 8 11172535 C A 0 0 1 0 0 0 1 Positive
AutG640BLK - 8 11415531 T C 0 0 1 0 0 0 1 Positive
AutG640BLK - 8 11420448 C T 0 0 1 0 0 0 1
AutG2626GATA4 - 8 11606467 A C 0 0 1 0 0 0 1 Positive
AutG2626GATA4 - 8 11607635 G A 0 0 1 0 0 0 1 Positive
AutG137868SGCZ - 8 13983619 A T 0 0 1 0 0 0 1
AutG7991TUSC3 - 8 15616831 G C 0 0 1 0 0 0 1
AutG51201ZDHHC2 - 8 17055913 A G 0 0 1 0 0 0 1 Positive
AutG57509MTUS1 - 8 17565338 A C 0 0 1 0 0 0 1
AutG2267FGL1 - 8 17731961 G T 0 0 1 0 0 0 1
AutG5108PCM1 - 8 17782220 A G 0 0 1 0 0 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