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
AutG57502NLGN4Xrs7049300 X 5821786 G A 0 1 0 0 0 0 1 Negative
AutG3688ITGB1rs7079624 - - - - 0 1 0 0 0 0 1 Negative
AutG3707ITPKBrs708772 - - - - 0 1 0 0 0 0 1 Negative
AutG64221ROBO3rs7102701 1 124737282 T C 0 1 0 0 0 0 1 Positive
AutG627BDNFrs7103873 1 27700317 G C 0 1 0 0 0 0 1 Negative
AutG54538ROBO4rs7104934 1 124756406 G A 0 1 0 0 0 0 1 Positive
AutG64221ROBO3rs7111513 1 124733377 T C 0 1 0 0 0 0 1 Positive
AutG64221ROBO3rs7120736 1 124737631 G A 0 1 0 0 0 0 1 Positive
AutG1408CRY2rs7121775 1 45864323 T C 0 1 0 0 0 0 1 Negative
AutG7299TYRrs7123206 1 88951332 C C 0 1 0 0 0 0 1 Negative
AutG627BDNFrs7124442 1 27677041 C C 0 1 0 0 0 0 1 Negative
AutG2918GRM8rs712723 - - - - 0 1 0 0 0 0 1 Positive
AutG627BDNFrs7127507 1 27714884 T C 0 1 0 0 0 0 1 Negative
AutG7299TYRrs7129973 1 88915570 A A 0 1 0 0 0 0 1 Negative
AutG5527PPP2R5Crs7142002 1 102360745 T C 0 1 0 0 0 0 1
AutG146183OTOArs715039 1 21715108 C C 0 1 0 0 0 0 1 Negative
AutG57478USP31rs715368 1 23141146 G C 0 1 0 0 0 0 1 Negative
AutG27347STK39rs715878 2 168906641 A A 0 1 0 0 0 0 1 Positive
AutG23191CYFIP1rs7170637 1 22969232 G A 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs7178735 1 27393731 T G 0 1 0 0 0 0 1 Negative

Page Counts: 67/584  
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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