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
AutG8452CUL3 - 2 225362541 G A 0 0 0 0 0 1 1 Positive
AutG1859DYRK1A - 21 38007970 - 39747620 - - 0 0 0 0 0 1 1 Positive
AutG1859DYRK1A - 21 38858865 C T 0 0 0 0 0 1 1 Positive
AutG1859DYRK1A - 21 38858873 - 38858876 - - 0 0 0 0 0 1 1 Positive
AutG1859DYRK1A - 21 38862575 C T 0 0 0 0 0 1 1 Positive
AutG1859DYRK1A - 21 38862656 - - 0 0 0 0 0 1 1 Positive
AutG1859DYRK1A - 21 38862757 - - 0 0 0 0 0 1 1 Positive
AutG1859DYRK1A - 21 38865403 T C 0 0 0 0 0 1 1 Positive
AutG1859DYRK1A - 21 38868553 - - 0 0 0 0 0 1 1 Positive
AutG1859DYRK1A - 21 38884305 C A 0 0 0 0 0 1 1 Positive
AutG23765IL17RA - 22 17588636 - - 0 0 0 0 0 1 1 Positive
AutG29072SETD2 - 3 47164098 - - 0 0 0 0 0 1 1 Positive
AutG27086FOXP1 - 3 71021818 - - 0 0 0 0 0 1 1 Positive
AutG27086FOXP1 - 3 71026829 - - 0 0 0 0 0 1 1 Positive
AutG27086FOXP1 - 3 71027010 - - 0 0 0 0 0 1 1 Positive
AutG5021OXTR - 3 8794707 G C 0 0 0 0 0 1 1 Positive
AutG7204TRIO - 5 14290933 - - 0 0 0 0 0 1 1 Positive
AutG6531SLC6A3 - 5 14303128 - - 0 0 0 0 0 1 1 Positive
AutG7204TRIO - 5 14366984 C A 0 0 0 0 0 1 1 Positive
AutG7204TRIO - 5 14387688 T C 0 0 0 0 0 1 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