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
AutG6566SLC16A1 - 1 113460234 A G 0 0 1 0 0 0 1 Positive
AutG4343MOV10 - 1 113242329 A G 0 0 1 0 0 0 1 Positive
AutG4343MOV10 - 1 113235478 - - 0 0 1 0 0 0 1
AutG54879ST7L - 1 113084629 T C 0 0 1 0 0 0 1
AutG7482WNT2B - 1 113010107 C A 0 0 1 0 0 0 1
AutG55917CTTNBP2NL - 1 112999487 G A 0 0 1 0 0 0 1 Positive
AutG3752KCND3 - 1 112525095 T A 0 0 1 0 0 0 1 Positive
AutG3752KCND3 - 1 112525092 C G 0 0 1 0 0 0 1 Positive
AutG11218DDX20 - 1 112308784 T K 0 0 1 0 0 0 1
AutGLAMTOR5 - 1 110944184 G A 0 0 1 0 0 0 1
AutG85369FAM40A - 1 110584430 GC G 0 0 1 0 0 0 1
AutG1435CSF1 - 1 110456998 C T 0 0 1 0 0 0 1
AutG57463AMIGO1 - 1 110050709 G A 0 0 1 0 0 0 1
AutG284613CYB561D1 - 1 110038457 G T 0 0 1 0 0 0 1
AutG6814STXBP3 - 1 109315441 G A 0 0 1 0 0 0 1 Positive
AutG55119PRPF38B - 1 109242140 AAGAG A 0 0 1 0 0 0 1
AutG22854TG1 - 1 108065538 C - 0 0 1 0 0 0 1
AutG22854TG1 - 1 107889760 A - 0 0 1 0 0 0 1
AutG280AMY2B - 1 104121995 G S 0 0 1 0 0 0 1
AutG1901S1PR1 - 1 102115942 A C 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