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
AutG196385DNAH10 - 12 124356105 G T 0 0 0 0 1 0 1
AutG196385DNAH10 - 12 124401027 C A 0 0 0 0 1 0 1
AutG51202DDX47 - 12 12976177 A T 0 0 0 0 1 0 1 Positive
AutG5426POLE - 12 133240613 C T 0 0 0 0 1 0 1
AutG5426POLE - 12 133252760 A C 0 0 0 0 1 0 1
AutG7699ZNF140 - 12 133682990 C T 0 0 0 0 1 0 1
AutG440122ZNF891 - 12 133702124 G C 0 0 0 0 1 0 1
AutG2904GRIN2B - 12 13715854 C A/C 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 13715902 G A/G 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 13715916 G A/G 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 13715936 C T 0 0 0 0 1 0 1
AutG2904GRIN2B - 12 13716156 A A/G 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 13716157 T C/T 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 13716297 T C 0 0 0 0 1 0 1
AutG2904GRIN2B - 12 13716489 G A/G 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 13716512 G C 0 0 0 0 1 0 1
AutG2904GRIN2B - 12 13716667 C C/T 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 13716876 C T 0 0 0 0 1 0 1
AutG2904GRIN2B - 12 13717054 C C/T 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 13717054 C T 0 0 0 0 1 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