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
AutG81704DOCK8 - 9 328170 A A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 332450 C C/T 0 0 0 0 1 0 1 Positive
AutG4799NFX1 - 9 33366682 G A 0 0 0 0 1 0 1
AutG81704DOCK8 - 9 336692 C A/C 0 0 0 0 1 0 1 Positive
AutG10497UNC13B - 9 35377646 T G 0 0 0 0 1 0 1 Positive
AutG730112FAM166B - 9 35563361 G A 0 0 0 0 1 0 1
AutG10488CREB3 - 9 35736692 C G 0 0 0 0 1 0 1
AutG881CCIN - 9 36169894 A G 0 0 0 0 1 0 1
AutG9833MELK - 9 36583642 A G 0 0 0 0 1 0 1
AutG81704DOCK8 - 9 368064 C C/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 368088 A A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 371468 G A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 376270 A A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 377154 G C/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 377191 T G/T 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 379893 G A/G 0 0 0 0 1 0 1 Positive
AutG169792GLIS3 - 9 3941864 T C 0 0 0 0 1 0 1
AutG81704DOCK8 - 9 404946 C C/T 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 405035 A A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 407023 C C/T 0 0 0 0 1 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