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
AutG27253PCDH17 - 13 60108300 C A 0 0 1 0 0 0 1
AutG27253PCDH17 - 13 58240602 A G 0 0 1 0 0 0 1 Positive
AutG10562OLFM4 - 13 53624124 G A 0 0 1 0 0 0 1
AutG10910SUGT1 - 13 53261963 A C 0 0 1 0 0 0 1 Positive
AutG9724UTP14C - 13 52603682 A G 0 0 1 0 0 0 1 Positive
AutG26512INTS6 - 13 51969635 A G 0 0 1 0 0 0 1
AutG8847DLEU2 - 13 50585011 C G 0 0 1 0 0 0 1
AutG84650EBPL - 13 50235260 G C 0 0 1 0 0 0 1
AutG83852SETDB2 - 13 50056886 C G 0 0 1 0 0 0 1 Positive
AutG1102RCBTB2 - 13 49093193 A G 0 0 1 0 0 0 1
AutG29079MED4 - 13 48657525 T C 0 0 1 0 0 0 1 Positive
AutG8803SUCLA2 - 13 48575333 G A 0 0 1 0 0 0 1
AutGKIAA0226L - 13 46933633 T G 0 0 1 0 0 0 1 Positive
AutG283514SIAH3 - 13 46387344 G A 0 0 1 0 0 0 1
AutG253512SLC25A30 - 13 45980041 G A 0 0 1 0 0 0 1
AutG8600TNFSF11 - 13 43174596 A T 0 0 1 0 0 0 1
AutG160851DGKH - 13 42733479 G A 0 0 1 0 0 0 1
AutG23078KIAA0564 - 13 42293799 A G 0 0 1 0 0 0 1
AutGVWA8 - 13 42265576 C A 0 0 1 0 0 0 1
AutG387921NHLRC3 - 13 39827231 G T 0 0 1 0 0 0 1

Page Counts: 139/584  
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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