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
AutG9530BAG4rs57709857 - - - - 1 0 0 0 0 0 1 Positive
AutG1756DMDrs5972577 X 32480290 A A 1 0 0 0 0 0 1 Positive
AutG64405CDH22rs6131030 2 44807986 G A 1 0 0 0 0 0 1 Positive
AutG5592PRKG1rs61847307 - - - - 1 0 0 0 0 0 1 Positive
AutG115677NOSTRINrs6433093 2 169658944 A A 1 0 0 0 0 0 1 Positive
rs6452304 5 25924228 T C 1 0 0 0 0 0 1 Positive
rs6452305 5 25924622 A A 1 0 0 0 0 0 1 Positive
AutG158800RHOXF1rs6646569 X 119241774 C C 1 0 0 0 0 0 1 Positive
AutG26245OR2M4rs6672981 - - - - 1 0 0 0 0 0 1 Positive
rs6717587 2 176157050 T C 1 0 0 0 0 0 1 Positive
AutG140469MYO3Brs6738892 2 171060729 C C 1 0 0 0 0 0 1 Positive
AutG27086FOXP1rs6803008 - - - - 1 0 0 0 0 0 1 Positive
rs6873221 5 25928566 G A 1 0 0 0 0 0 1 Positive
rs6891206 5 25969379 T C 1 0 0 0 0 0 1 Positive
rs6894102 5 25897556 T C 1 0 0 0 0 0 1 Positive
rs6894838 5 25944946 T C 1 0 0 0 0 0 1 Positive
AutG6608SMOrs6962740 - - - - 1 0 0 0 0 0 1 Positive
AutG375612LHFPL3rs6976167 - - - - 1 0 0 0 0 0 1 Positive
rs7026342 9 111280201 C C 1 0 0 0 0 0 1 Positive
rs7030851 9 111281164 G A 1 0 0 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