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
AutG163351GBP6 - 1 89846006 A G 0 0 1 0 0 0 1
AutG22802CLCA4 - 1 87043692 G A 0 0 1 0 0 0 1
AutG54680ZNHIT6 - 1 86173504 T A 0 0 1 0 0 0 1
AutG23266LPHN2 - 1 83489118 A G 0 0 1 0 0 0 1
AutG23266LPHN2 - 1 83154514 C T 0 0 1 0 0 0 1
AutG64123ELTD1 - 1 79392717 C T 0 0 1 0 0 0 1
AutG10964IFI44L - 1 79102731 A G 0 0 1 0 0 0 1
AutG10964IFI44L - 1 79093807 T A 0 0 1 0 0 0 1
AutG26289AK5 - 1 78001663 C G 0 0 1 0 0 0 1
AutG256435ST6GALNAC3 - 1 76550237 T C 0 0 1 0 0 0 1
AutG127247ASB17 - 1 76397917 G T 0 0 1 0 0 0 1
AutG127247ASB17 - 1 76387833 C T 0 0 1 0 0 0 1
AutG4438MSH4 - 1 76282194 CA C 0 0 1 0 0 0 1
AutG431707LHX8 - 1 75602329 C T 0 0 1 0 0 0 1
AutG257194NEGR1 - 1 72896714 G A 0 0 1 0 0 0 1
AutG5733PTGER3 - 1 71439935 C CG 0 0 1 0 0 0 1
AutG9295SRSF11 - 1 70703186 GA G 0 0 1 0 0 0 1
AutG9295SRSF11 - 1 70697982 CTG C 0 0 1 0 0 0 1
AutG55631LRRC40 - 1 70614246 T A 0 0 1 0 0 0 1 Positive
AutG55635DEPDC1 - 1 68949730 A G 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