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
AutG8838WISP3 - 6 112389528 A G 0 0 1 0 0 0 1
AutG23270TSPYL4 - 6 116574302 G T 0 0 1 0 0 0 1
AutG345895RSPH4A - 6 116953391 A G 0 0 1 0 0 0 1
AutG222546RFX6 - 6 117248533 C A 0 0 1 0 0 0 1
AutG6098ROS1 - 6 117724420 A G 0 0 1 0 0 0 1
AutG6098ROS1 - 6 117725523 T K 0 0 1 0 0 0 1
AutG285761DCBLD1 - 6 117866761 GTAA G 0 0 1 0 0 0 1
AutG387119C6orf204 - 6 118887070 C T 0 0 1 0 0 0 1
AutG285762LOC285762 - 6 120865388 T C 0 0 1 0 0 0 1
AutG285762LOC285762 - 6 121245914 C A 0 0 1 0 0 0 1
AutG221322C6orf170 - 6 121638649 A G 0 0 1 0 0 0 1
AutG134829CLVS2 - 6 123369774 TC T 0 0 1 0 0 0 1
AutG387104C6orf174 - 6 127796553 C S 0 0 1 0 0 0 1
AutG5796PTPRK - 6 128296458 G A 0 0 1 0 0 0 1
AutG5796PTPRK - 6 128326372 C Y 0 0 1 0 0 0 1
AutG3908LAMA2 - 6 129468180 A C 0 0 1 0 0 0 1
AutG93663ARHGAP18 - 6 129963090 G A 0 0 1 0 0 0 1
AutG9465AKAP7 - 6 131656696 G A 0 0 1 0 0 0 1
AutG10767HBS1L - 6 135290444 G A 0 0 1 0 0 0 1
AutG4602MYB - 6 135507151 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