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
AutG23519ANP32D - 12 48866524 ACAGT A 0 0 1 0 0 0 1
AutG121274ZNF641 - 12 48847756 T C 0 0 1 0 0 0 1
AutG1280COL2A1 - 12 48389108 A G 0 0 1 0 0 0 1
AutG10411RAPGEF3 - 12 48152505 A C 0 0 1 0 0 0 1
AutG10411RAPGEF3 - 12 48131375 C CG 0 0 1 0 0 0 1
AutG196528ARID2 - 12 46233502 C A 0 0 1 0 0 0 1
AutG196528ARID2 - 12 46233500 T A 0 0 1 0 0 0 1
AutG440097DBX2 - 12 45410229 G C 0 0 1 0 0 0 1
AutG5756TWF1 - 12 44190856 G A 0 0 1 0 0 0 1 Positive
AutG10138YAF2 - 12 42629785 - - 0 0 1 0 0 0 1
AutG29951PDZRN4 - 12 41967048 G A 0 0 1 0 0 0 1
AutG283461C12orf40 - 12 40037634 A G 0 0 1 0 0 0 1
AutG55605KIF21A - 12 39726737 G A 0 0 1 0 0 0 1
AutGNONE - 12 38320669 C G 0 0 1 0 0 0 1
AutG84920ALG10 - 12 34787156 G A 0 0 1 0 0 0 1
AutG10059DNM1L - 12 32861132 CAGA CA 0 0 1 0 0 0 1
AutG121512FGD4 - 12 32786564 AT A 0 0 1 0 0 0 1
AutG55196C12orf35 - 12 32134096 T C 0 0 1 0 0 0 1
AutGMETTL20 - 12 31820918 G R 0 0 1 0 0 0 1
AutG51290ERGIC2 - 12 29496095 C CA 0 0 1 0 0 0 1

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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