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
AutG2309FOXO3 - 6 108985226 C G 0 0 0 1 0 0 1
AutG285753CEP57L1 - 6 109477060 G A 0 0 0 1 0 0 1
AutG23097CDK19 - 6 110942509 G C 0 0 0 1 0 0 1 Positive
AutG262AMD1 - 6 111213267 G A 0 0 0 1 0 0 1
AutG6098ROS1 - 6 117725523 T G 0 0 0 1 0 0 1
AutG3908LAMA2 - 6 129371158 G C 0 0 0 1 0 0 1 Positive
AutG3908LAMA2 - 6 129468180 A C 0 0 0 1 0 0 1
AutG9774BCLAF1 - 6 136597334 T G 0 0 0 1 0 0 1
AutG9774BCLAF1 - 6 136597435 G C 0 0 0 1 0 0 1
AutG3097HIVEP2 - 6 143094725 G A 0 0 0 1 0 0 1 Positive
AutG7402UTRN - 6 144783895 A G 0 0 0 1 0 0 1
AutG23328SASH1 - 6 148835535 C T 0 0 0 1 0 0 1 Positive
AutG23328SASH1 - 6 148855947 G A 0 0 0 1 0 0 1 Positive
AutG135250RAET1E - 6 150211107 C A 0 0 0 1 0 0 1
AutG353091RAET1G - 6 150238093 G C 0 0 0 1 0 0 1
AutG389434IYD - 6 150690237 G A 0 0 0 1 0 0 1
AutG389434IYD - 6 150710567 G C 0 0 0 1 0 0 1
AutG23345SYNE1 - 6 152782817 G A 0 0 0 1 0 0 1 Positive
AutG26271FBXO5 - 6 153295985 C T 0 0 0 1 0 0 1
AutG79683ZDHHC14 - 6 158014147 C T 0 0 0 1 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