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 21859683 G A/G 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21859777 G A/G 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21860701 T G/T 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21860704 C C/T 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21860919 - - 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21860964 C C/T 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21861665 C C/G 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21861748 G A/G 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21861785 T C/T 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21862229 G A/G 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21863090 G A/G 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21871618 T G 0 0 0 0 1 0 1
AutG57680CHD8 - 14 21897151 A A/G 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21897245 G C/G 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21899387 G C/G 0 0 0 0 1 0 1 Positive
AutG26020LRP10 - 14 23345532 G A 0 0 0 0 1 0 1
AutG10278EFS - 14 23829490 C T 0 0 0 0 1 0 1
AutG4624MYH6 - 14 23869560 G C 0 0 0 0 1 0 1
AutG728635DHRS4L1 - 14 24476332 A G 0 0 0 0 1 0 1
AutG728635DHRS4L1 - 14 24476338 C T 0 0 0 0 1 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