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
AutG84812PLCD4 - 2 219483415 C T 0 0 2 0 0 0 2 Positive
AutG23363OBSL1 - 2 220422963 C T 0 0 2 0 0 0 2 Positive
AutG1144CHRND - 2 233396326 G A 0 0 2 0 0 0 2 Positive
AutG6694SPP2 - 2 234969088 TC T 0 0 2 0 0 0 2
AutG51665ASB1 - 2 239344638 C A 0 0 2 0 0 0 2
AutG83959SLC4A11 - 20 3218211 T C 0 0 2 0 0 0 2
AutG27131SNX5 - 20 17923824 T C 0 0 2 0 0 0 2 Positive
AutG128822CST9 - 20 23584346 A G 0 0 2 0 0 0 2 Positive
AutG128853DUSP15 - 20 30450489 G A 0 0 2 0 0 0 2
AutG9777TM9SF4 - 20 30738473 T A 0 0 2 0 0 0 2 Positive
AutG3787KCNS1 - 20 43723695 C T 0 0 2 0 0 0 2 Positive
AutG1859DYRK1A - 21 38865466 G R 0 0 2 0 0 0 2
AutG1859DYRK1A - 21 38877655 C T 0 0 2 0 0 0 2
AutG51816CECR1 - 22 17662817 C T 0 0 2 0 0 0 2
AutG57553MICAL3 - 22 18387403 T C 0 0 2 0 0 0 2 Positive
AutG164592CCDC116 - 22 21989210 C T 0 0 2 0 0 0 2
AutG140883ZNF280B - 22 22842831 T C 0 0 2 0 0 0 2
AutG2130EWSR1 - 22 29693821 A G 0 0 2 0 0 0 2
AutG27128CYTH4 - 22 37693679 C T 0 0 2 0 0 0 2
AutG27352SGSM3 - 22 40802589 C Y 0 0 2 0 0 0 2

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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