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
AutG25782RAB3GAP2rs6541127 - - - - 0 1 0 0 0 0 1 Positive
AutG5307PITX1rs657223 - - - - 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs6587767 1 57800285 C C 0 1 0 0 0 0 1 Positive
AutG54538ROBO4rs6590109 1 124759048 G A 0 1 0 0 0 0 1 Positive
AutG5307PITX1rs6596188 - - - - 0 1 0 0 0 0 1 Positive
AutG5307PITX1rs6596189 - - - - 0 1 0 0 0 0 1 Positive
AutG4762NEUROG1rs6596238 - - - - 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs6606855 1 27264157 G A 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs6606877 1 27386986 T C 0 1 0 0 0 0 1 Negative
AutG5649RELNrs661575 - - - - 0 1 0 0 0 0 1 Positive
AutG438ASMTrs6644635 Y 1683994 T C 0 1 0 0 0 0 1 Negative
AutG27185DISC1rs6668845 - - - - 0 1 0 0 0 0 1 Positive
-rs6675606 - - - - 0 1 0 0 0 0 1 Negative
AutG8476CDC42BPArs667621 - - - - 0 1 0 0 0 0 1 Negative
AutG1600DAB1rs6687842 1 57815932 C A 0 1 0 0 0 0 1 Positive
AutG23219FBXO28rs6688818 - - - - 0 1 0 0 0 0 1 Negative
AutG10651MTX2rs6709357 2 177146275 T C 0 1 0 0 0 0 1 Negative
AutG3231HOXD1rs6710142 2 177054769 G A 0 1 0 0 0 0 1 Positive
AutG3655ITGA6rs6714597 2 173338486 T C 0 1 0 0 0 0 1 Negative
AutG10651MTX2rs6720043 2 177135473 A A 0 1 0 0 0 0 1 Negative

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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