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
AutG339768ESPL - 2 239040083 G A 0 0 1 0 0 0 1
AutG8864PER2 - 2 239161576 G A 0 0 1 0 0 0 1
AutG8864PER2 - 2 239171590 ACTCT ACT 0 0 1 0 0 0 1
AutGPER2;PER2 - 2 239171592 CT - 0 0 1 0 0 0 1
AutG51281ANKMY1 - 2 241492374 G A 0 0 1 0 0 0 1
AutG11132CAPN10 - 2 241534627 G A 0 0 1 0 0 0 1
AutG2859GPR35 - 2 241569791 G T 0 0 1 0 0 0 1 Positive
AutG547KIF1A - 2 241658532 C T 0 0 1 0 0 0 1 Positive
AutG79919C2orf54 - 2 241835121 C T 0 0 1 0 0 0 1
AutG5510PPP1R7 - 2 242098627 ACT A 0 0 1 0 0 0 1
AutG3069HDLBP - 2 242186202 C M 0 0 1 0 0 0 1
AutG3069HDLBP - 2 242196047 G A 0 0 1 0 0 0 1 Positive
AutG10494STK25 - 2 242435818 C T 0 0 1 0 0 0 1
AutG23192ATG4B - 2 242611640 C T 0 0 1 0 0 0 1
AutG728294D2HGDH - 2 242694601 G C 0 0 1 0 0 0 1
AutG64090GAL3ST2 - 2 242743557 G A 0 0 1 0 0 0 1
AutG5133PDCD1 - 2 242795103 * complex, -G & K at 242795103 0 0 1 0 0 0 1
AutG5133PDCD1 - 2 242795110 G T 0 0 1 0 0 0 1
AutG140680C20orf96 - 20 259956 C A 0 0 1 0 0 0 1
AutG642636RAD21L1 - 20 1210539 C T 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