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
AutG2354FOSBrs1049739 1 45978375 A A 0 1 0 0 0 0 1 Negative
AutG9481SLC25A27rs10498770 6 46643653 C C 0 1 0 0 0 0 1 Negative
AutG26047CNTNAP2rs10500171 - - - - 0 1 0 0 0 0 1 Positive
AutG627BDNFrs10501087 1 27670108 T C 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs10513758 3 178373665 T C 0 1 0 0 0 0 1 Positive
AutG7249TSC2rs1051771 1 2138584 G A 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs10519563 1 26823404 C C 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs10519566 1 26975870 G A 0 1 0 0 0 0 1 Positive
AutG9262STK17Brs1054537 2 197004439 A C 0 1 0 0 0 0 1 Negative
AutG1312COMTrs1055503 2 19941511 G A 0 1 0 0 0 0 1 Negative
AutG51108METTL9rs1055740 1 21652720 A C 0 1 0 0 0 0 1 Negative
AutG4747NEFLrs1059111 8 24810088 T A 0 1 0 0 0 0 1 Negative
AutG4843NOS2rs1060826 1 26089867 T A 0 1 0 0 0 0 1 Positive
AutG2058EPRSrs1061160 - - - - 0 1 0 0 0 0 1 Negative
AutG5649RELNrs1062831 - - - - 0 1 0 0 0 0 1 Positive
AutG2568GABRPrs1063310 - - - - 0 1 0 0 0 0 1 Negative
AutG4010LMX1Brs10732392 9 129396037 A A 0 1 0 0 0 0 1 Positive
AutG4010LMX1Brs10733682 9 129460914 A A 0 1 0 0 0 0 1 Positive
AutG387755INSCrs10734234 1 15465860 C C 0 1 0 0 0 0 1 Positive
AutG4010LMX1Brs10760444 9 129396434 G A 0 1 0 0 0 0 1 Positive

Page Counts: 4/584  
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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