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
AutG10318TNIP1 - 5 150444567 C T 0 0 1 0 0 0 1
AutG2760GM2A - 5 150646399 G A 0 0 1 0 0 0 1
AutG2196FAT2 - 5 150948279 G A 0 0 1 0 0 0 1 Positive
AutG6678SPARC - 5 151054254 A G 0 0 1 0 0 0 1
AutG10146G3BP1 - 5 151166276 G A 0 0 1 0 0 0 1
AutG10146G3BP1 - 5 151166277 G A 0 0 1 0 0 0 1
AutG10146G3BP1 - 5 151173742 A G 0 0 1 0 0 0 1
AutG10146G3BP1 - 5 151180332 G A 0 0 1 0 0 0 1 Positive
AutG2890GRIA1 - 5 153030052 G A 0 0 1 0 0 0 1 Positive
AutG2890GRIA1 - 5 153144076 G A 0 0 1 0 0 0 1 Positive
AutG23367LARP1 - 5 154193454 - - 0 0 1 0 0 0 1
AutG3702ITK - 5 156649954 C T 0 0 1 0 0 0 1 Positive
AutG3702ITK - 5 156679654 - - 0 0 1 0 0 0 1 Positive
AutG26999CYFIP2 - 5 156819928 G A 0 0 1 0 0 0 1 Positive
AutG1879EBF1 - 5 158140033 G T 0 0 1 0 0 0 1
AutG7265TTC1 - 5 159489277 G A 0 0 1 0 0 0 1
AutG10569SLU7 - 5 159831501 T C 0 0 1 0 0 0 1
AutG406938MIR146A - 5 159963901 A G 0 0 1 0 0 0 1
AutG23120ATP10B - 5 160049576 G A 0 0 1 0 0 0 1 Positive
AutG2566GABRG2 - 5 161522557 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