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
AutG6342SCP2 - 1 53416506 * D:TG 0 0 1 0 0 0 1
AutG9372ZFYVE9 - 1 52704550 T K 0 0 1 0 0 0 1
AutG114883OSBPL9 - 1 52253139 G C 0 0 1 0 0 0 1
AutG22996TTC39A - 1 51771704 T C 0 0 1 0 0 0 1
AutG22996TTC39A - 1 51768226 G R 0 0 1 0 0 0 1
AutG84871AGBL4 - 1 49899272 A G 0 0 1 0 0 0 1
AutG6491STIL - 1 47746823 A complex, R & Y at 47746810 0 0 1 0 0 0 1
AutG6491STIL - 1 47746815 T C 0 0 1 0 0 0 1
AutG127343DMBX1 - 1 46977822 C A 0 0 1 0 0 0 1 Positive
AutG23139MAST2 - 1 46501219 A G 0 0 1 0 0 0 1
AutG23139MAST2 - 1 46500523 G A 0 0 1 0 0 0 1
AutG11004KIF2C - 1 45214051 C G 0 0 1 0 0 0 1
AutG55929DMAP1 - 1 44680521 G A 0 0 1 0 0 0 1 Positive
AutG128209KLF17 - 1 44595425 C G 0 0 1 0 0 0 1
AutG149473CCDC24 - 1 44458012 C T 0 0 1 0 0 0 1
AutG6487ST3GAL3 - 1 44201955 C Y 0 0 1 0 0 0 1
AutG9682KDM4A - 1 44132164 C T 0 0 1 0 0 0 1
AutG5792PTPRF - 1 44056693 A C 0 0 1 0 0 0 1 Positive
AutG4352MPL - 1 43817033 G C 0 0 1 0 0 0 1
AutG440585FAM183A - 1 43614555 C T 0 0 1 0 0 0 1

Page Counts: 198/584  
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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