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
AutG11284PNKP - 19 50367560 C G 0 0 1 0 0 0 1
AutG50944SHANK1 - 19 51169513 C T 0 0 1 0 0 0 1
AutG50944SHANK1 - 19 51190000 C C/T 0 0 1 0 0 0 1
AutG3816KLK1 - 19 51323488 C T 0 0 1 0 0 0 1
AutG2109ETFB - 19 51848515 C M 0 0 1 0 0 0 1
AutG284371ZNF841 - 19 52569251 G A 0 0 1 0 0 0 1
AutG90321ZNF766 - 19 52793889 G A 0 0 1 0 0 0 1
AutG147660ZNF578 - 19 53015256 G GT 0 0 1 0 0 0 1
AutG79788ZNF665 - 19 53669453 T C 0 0 1 0 0 0 1
AutG91662NLRP12 - 19 54308705 T G 0 0 1 0 0 0 1
AutG5582PRKCG - 19 54395806 G T 0 0 1 0 0 0 1
AutG4849CNOT3 - 19 54649666 T TC 0 0 1 0 0 0 1
AutG4849CNOT3 - 19 54653359 CAG C 0 0 1 0 0 0 1
AutG4849CNOT3 - 19 54656675 * 2D, -TG 0 0 1 0 0 0 1
AutG147798TMC4 - 19 54666461 G T 0 0 1 0 0 0 1
AutG147798TMC4 - 19 54672377 A R 0 0 1 0 0 0 1 Positive
AutG79143MBOAT7 - 19 54687558 C T 0 0 1 0 0 0 1
AutG79168LILRA6 - 19 54746568 A T 0 0 1 0 0 0 1
AutG11026LILRA3 - 19 54803750 G T 0 0 1 0 0 0 1
AutG23547LILRA4 - 19 54844975 G A 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