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
AutG2568GABRPrs732157 - - - - 0 1 0 0 0 0 1 Negative
AutG7337UBE3Ars732739 1 25679667 C C 0 1 0 0 0 0 1 Negative
AutG7472WNT2rs733153 - - - - 0 1 0 0 0 0 1 Positive
AutG65061ALS2CR7rs733882 2 202757069 G C 0 1 0 0 0 0 1 Negative
AutG7337UBE3Ars734127 1 25679056 T A 0 1 0 0 0 0 1 Negative
AutG146909KIF18Brs736866 1 43009797 C A 0 1 0 0 0 0 1 Positive
AutG3912LAMB1rs737955 - - - - 0 1 0 0 0 0 1 Positive
AutG57020C16orf62rs739566 1 19697537 C C 0 1 0 0 0 0 1 Negative
AutG4843NOS2rs7406657 1 26083690 G C 0 1 0 0 0 0 1 Positive
AutG54715A2BP1rs740677 1 7711761 T C 0 1 0 0 0 0 1 Negative
AutG2146EZH2rs740949 - - - - 0 1 0 0 0 0 1 Positive
AutG5803PTPRZ1rs740960 - - - - 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs741121 1 27407771 G A 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs7427179 3 178383255 C C 0 1 0 0 0 0 1 Positive
AutG59345GNB4rs7428403 3 179180937 G A 0 1 0 0 0 0 1 Positive
AutG200909HTR3Drs7430671 3 183761664 G C 0 1 0 0 0 0 1 Negative
AutG285242HTR3Ers7432211 3 183819155 T C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs7433956 3 178381419 C C 0 1 0 0 0 0 1 Positive
AutG57194ATP10Crs744280 1 25960629 C C 0 1 0 0 0 0 1 Positive
AutG6714SRCrs747182 2 35982889 T C 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