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
AutG152138PYDC2 - 3 191286856 C T 0 0 1 0 0 0 1
AutG152138PYDC2 - 3 191286870 A T 0 0 1 0 0 0 1
AutG2257FGF12 - 3 192078290 G A 0 0 1 0 0 0 1
AutG79572ATP13A3 - 3 194146080 G T 0 0 1 0 0 0 1
AutG79572ATP13A3 - 3 194151881 T C 0 0 1 0 0 0 1
AutG55341LSG1 - 3 194386345 C T 0 0 1 0 0 0 1
AutG23527ACAP2 - 3 195063205 G A 0 0 1 0 0 0 1
AutG4585MUC4 - 3 195505250 G A 0 0 1 0 0 0 1
AutG4585MUC4 - 3 195512768 T A 0 0 1 0 0 0 1
AutG4585MUC4 - 3 195513364 C T 0 0 1 0 0 0 1
AutG4585MUC4 - 3 195515198 C G 0 0 1 0 0 0 1
AutG4585MUC4 - 3 195515997 G T 0 0 1 0 0 0 1
AutGAC069257.9.1 - 3 195955097 C A 0 0 1 0 0 0 1
AutG26043UBXN7 - 3 196134173 G A 0 0 1 0 0 0 1
AutG4241MFI2 - 3 196753547 G A 0 0 1 0 0 0 1
AutG9711KIAA0226 - 3 197423603 A G 0 0 1 0 0 0 1
AutG9711KIAA0226 - 3 197423604 C T 0 0 1 0 0 0 1
AutG84859LRCH3 - 3 197544071 G A 0 0 1 0 0 0 1
AutG152687ZF595 - 4 85969 G GA 0 0 1 0 0 0 1
AutG170960ZNF721 - 4 476741 C A 0 0 1 0 0 0 1

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  (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