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
AutG283417DPY19L2 - 12 64062118 G A 0 0 1 0 0 0 1
AutG552AVPR1A - 12 63544381 G A 0 0 1 0 0 0 1
AutG552AVPR1A - 12 63543651 C T 0 0 1 0 0 0 1
AutG23041MON2 - 12 62892681 T C 0 0 1 0 0 0 1
AutG9958USP15 - 12 62778084 G A 0 0 1 0 0 0 1
AutG9958USP15 - 12 62775296 * 4D, -TGAG 0 0 1 0 0 0 1
AutG9194SLC16A7 - 12 61329557 G A 0 0 1 0 0 0 1
AutG91419XRCC6BP1 - 12 58565717 G T 0 0 1 0 0 0 1
AutG1594CYP27B1 - 12 58157512 C T 0 0 1 0 0 0 1 Positive
AutG116986AGAP2 - 12 58131129 G C 0 0 1 0 0 0 1
AutG116986AGAP2 - 12 58125237 C T 0 0 1 0 0 0 1
AutG3798KIF5A - 12 57970127 A G 0 0 1 0 0 0 1 Positive
AutG1649DDIT3 - 12 57911130 G A 0 0 1 0 0 0 1
AutG4035LRP1 - 12 57599250 G A 0 0 1 0 0 0 1
AutG4035LRP1 - 12 57594563 A G 0 0 1 0 0 0 1 Positive
AutG4035LRP1 - 12 57548340 C T 0 0 1 0 0 0 1
AutG4035LRP1 - 12 57532354 C Y 0 0 1 0 0 0 1
AutG4640MYO1A - 12 57422391 - - 0 0 1 0 0 0 1
AutG4666NACA - 12 57106655 A R 0 0 1 0 0 0 1
AutG8914TIMELESS - 12 56817589 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