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
AutG8557TCAP - 17 37822174 C T 0 0 0 0 1 0 1
AutG5914RARA - 17 38511626 C T 0 0 0 0 1 0 1 Positive
AutG6521SLC4A1 - 17 42335140 C G 0 0 0 0 1 0 1
AutG79877DCAKD - 17 43107456 A T 0 0 0 0 1 0 1
AutG124783C17orf46 - 17 43332921 C A 0 0 0 0 1 0 1
AutG201305SPNS3 - 17 4349389 C T 0 0 0 0 1 0 1
AutG201305SPNS3 - 17 4391185 C G 0 0 0 0 1 0 1
AutG10514MYBBP1A - 17 4447799 C T 0 0 0 0 1 0 1
AutG124975GGT6 - 17 4463713 A G 0 0 0 0 1 0 1
AutG8631SKAP1 - 17 46410049 C - 0 0 0 0 1 0 1
AutG2027ENO3 - 17 4858791 C T 0 0 0 0 1 0 1
AutG8913CACNA1G - 17 48680533 G A 0 0 0 0 1 0 1 Positive
AutG56934CA10 - 17 49829675 G A 0 0 0 0 1 0 1
AutG124540MSI2 - 17 55675858 C G 0 0 0 0 1 0 1
AutG9969MED13 - 17 60316138 G A 0 0 0 0 1 0 1
AutG11232POLG2 - 17 62479069 A C 0 0 0 0 1 0 1
AutG51321AMZ2 - 17 66251859 G A 0 0 0 0 1 0 1
AutG10350ABCA9 - 17 67023524 C T 0 0 0 0 1 0 1
AutGCASC17 - 17 69677568 G A 0 0 0 0 1 0 1
AutG84923FAM104A - 17 71205688 C T 0 0 0 0 1 0 1

Page Counts: 474/584  
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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