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
AutG79072FASTKD3 - 5 7867278 C T 0 0 1 0 0 0 1
AutG4552MTRR - 5 8109423 C T 0 0 1 0 0 0 1
AutG9037SEMA5A - 5 9050563 G C 0 0 1 0 0 0 1 Positive
AutG9037SEMA5A - 5 9119084 GTGCTGGCAGCA G 0 0 1 0 0 0 1
AutG1501CTNND2 - 5 11405108 G A 0 0 1 0 0 0 1
AutG1767DNAH5 - 5 13714585 G A 0 0 1 0 0 0 1 Positive
AutG1767DNAH5 - 5 13841076 C T 0 0 1 0 0 0 1 Positive
AutG1767DNAH5 - 5 13883123 C T 0 0 1 0 0 0 1
AutG1767DNAH5 - 5 13923403 * 1D, -A 0 0 1 0 0 0 1
AutG7204TRIO - 5 14015350 - - 0 0 1 0 0 0 1
AutG7204TRIO - 5 14143965 C T 0 0 1 0 0 0 1
AutG7204TRIO - 5 14364820 G T 0 0 1 0 0 0 1
AutG7204TRIO - 5 14388774 C Y 0 0 1 0 0 0 1
AutG7204TRIO - 5 14389434 AT A 0 0 1 0 0 0 1
AutG7204TRIO - 5 14394220 A T 0 0 1 0 0 0 1
AutG7204TRIO - 5 14461227 - A 0 0 1 0 0 0 1
AutG7204TRIO - 5 14485178 G C 0 0 1 0 0 0 1 Positive
AutG1016CDH18 - 5 19473795 C T 0 0 1 0 0 0 1
AutG56979PRDM9 - 5 23522893 T C 0 0 1 0 0 0 1 Positive
AutG1008CDH10 - 5 24492972 GA G 0 0 1 0 0 0 1

Page Counts: 339/584  
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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