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
AutG425054VCX3B - X 8434419 G A 0 0 1 0 0 0 1
AutGANOS1 - X 8522079 G A 0 0 1 0 0 0 1
AutG3730KAL1 - X 8522080 - - 0 0 1 0 0 0 1
AutG3730KAL1 - X 8522080 G A 0 0 1 0 0 0 1
AutG55841WWC3 - X 10104728 - - 0 0 1 0 0 0 1 Positive
AutG55841WWC3 - X 10104728 G A 0 0 1 0 0 0 1 Positive
AutG51284TLR7 - X 12905843 C T 0 0 1 0 0 0 1 Positive
AutG8481OFD1 - X 13774696 G T 0 0 1 0 0 0 1
AutG158747MOSPD2 - X 15023544 A T 0 0 1 0 0 0 1
AutG59272ACE2 - X 15607569 G A 0 0 1 0 0 0 1
AutG55787TXLNG - X 16847829 A T 0 0 1 0 0 0 1 Positive
AutG6792CDKL5 - X 18668586 C C/T 0 0 1 0 0 0 1
AutG5160PDHA1 - X 19373601 C T 0 0 1 0 0 0 1
AutG256643CXorf23 - X 19947974 G A 0 0 1 0 0 0 1
AutG6197RPS6KA3 - X 20193403 G S 0 0 1 0 0 0 1
AutG22866CNKSR2 - X 21551139 T C 0 0 1 0 0 0 1
AutG168400DDX53 - X 23017563 T A 0 0 1 0 0 0 1
AutG170302ARX - X 25031277 C T 0 0 1 0 0 0 1
AutG190NR0B1 - X 30327222 - - 0 0 1 0 0 0 1
AutG190NR0B1 - X 30327222 C A 0 0 1 0 0 0 1

Page Counts: 398/584  
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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