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
AutG2570GABRR2 - 6 90024862 - - 0 0 0 0 1 0 1 Positive
AutG2045EPHA7 - 6 94075084 C - 0 0 0 0 1 0 1
AutG100506207LOC100506207 - 6 9453956 T C 0 0 0 0 1 0 1
AutG643432TSG1 - 6 94554420 CAAAT - 0 0 0 0 1 0 1
AutG100302287MIR548H3 - 6 97670638 G T 0 0 0 0 1 0 1
AutG266553OFCC1 - 6 9809860 C T 0 0 0 0 1 0 1
AutGLOC101927314 - 6 98298859 G - 0 0 0 0 1 0 1
AutG266553OFCC1 - 6 9900660 C A 0 0 0 0 1 0 1
AutG100302164MIR2113 - 6 99164358 C A 0 0 0 0 1 0 1
AutG26235FBXL4 - 6 99426443 T - 0 0 0 0 1 0 1
AutG7455ZAN - 7 100346094 G A 0 0 0 0 1 0 1
AutG140453MUC17 - 7 100692149 C T 0 0 0 0 1 0 1
AutG5649RELN - 7 103234202 C T 0 0 0 0 1 0 1
AutG55904MLL5 - 7 104747899 G T 0 0 0 0 1 0 1
AutG1811SLC26A3 - 7 107427322 A C 0 0 0 0 1 0 1
AutG1811SLC26A3 - 7 107434192 A T 0 0 0 0 1 0 1
AutG4897NRCAM - 7 107822355 G A 0 0 0 0 1 0 1
AutG9732DOCK4 - 7 111428810 G A 0 0 0 0 1 0 1
AutG93986FOXP2 - 7 114482412 * +T/* 0 0 0 0 1 0 1 Positive
AutG221981THSD7A - 7 11704648 A - 0 0 0 0 1 0 1

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  (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