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
AutG5684PSMA3 - 14 58737715 GGT G 0 0 1 0 0 0 1
AutG387990TOMM20L - 14 58869468 G T 0 0 1 0 0 0 1 Positive
AutG9786KIAA0586 - 14 58895068 A G 0 0 1 0 0 0 1
AutG9786KIAA0586 - 14 58965637 G A 0 0 1 0 0 0 1
AutG51339DACT1 - 14 59113803 A T 0 0 1 0 0 0 1 Positive
AutG23002DAAM1 - 14 59660860 T A 0 0 1 0 0 0 1
AutG23002DAAM1 - 14 59782064 G A 0 0 1 0 0 0 1 Positive
AutG5494PPM1A - 14 60754950 A G 0 0 1 0 0 0 1
AutG27133KCNH5 - 14 63301375 C T 0 0 1 0 0 0 1
AutG6710SPTB - 14 65220412 T C 0 0 1 0 0 0 1
AutG6710SPTB - 14 65253441 T C 0 0 1 0 0 0 1 Positive
AutG23503ZFYVE26 - 14 68242625 C T 0 0 1 0 0 0 1 Positive
AutGRAD51B - 14 68661216 C T 0 0 1 0 0 0 1
AutG122453PLEKHD1 - 14 69988999 G T 0 0 1 0 0 0 1
AutG6547SLC8A3 - 14 70517735 G A 0 0 1 0 0 0 1
AutG22990PCNX - 14 71555929 A R 0 0 1 0 0 0 1
AutG22990PCNX - 14 71555961 - - 0 0 1 0 0 0 1
AutG26037SIPA1L1 - 14 72054914 C T 0 0 1 0 0 0 1
AutG8110DPF3 - 14 73307938 G C 0 0 1 0 0 0 1
AutG26094DCAF4 - 14 73420965 G C 0 0 1 0 0 0 1 Positive

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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