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
AutG57680CHD8 - 14 21871807 - TTTTTTTC 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21871373 T Y 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21871373 T C 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21871185 AT A 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21870652 C T 0 0 1 0 0 0 1 Positive
AutG57680CHD8 - 14 21870169 G R 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21868219 G A 0 0 1 0 0 0 1 Positive
AutG57680CHD8 - 14 21868156 - A 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21867866 T G 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21865980 A T 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21865979 A T 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21862535 G A 0 0 1 0 0 0 1
- 14 21862296 AG C 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21862265 G GT 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21862265 C T 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21861804 G GT 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21861643 TCTTC T 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21861643 * -CTTC/* 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21861376 * 2D, -CT 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21861376 * -CT/* 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