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
AutG57575PCDH10 - 4 134073761 G C 0 0 1 0 0 0 1 Positive
AutG132430PABPC4L - 4 135420890 G C 0 0 1 0 0 0 1
AutG132430PABPC4L - 4 136143615 T C 0 0 1 0 0 0 1
AutG23657SLC7A11 - 4 139160971 C T 0 0 1 0 0 0 1
AutGLINC00499 - 4 139728418 G A 0 0 1 0 0 0 1
AutG80155NAA15 - 4 140258086 - T 0 0 1 0 0 0 1
AutG80155NAA15 - 4 140262083 CT C 0 0 1 0 0 0 1
AutG80155NAA15 - 4 140262130 C G 0 0 1 0 0 0 1
AutG80155NAA15 - 4 140264104 AAC A 0 0 1 0 0 0 1
AutG80155NAA15 - 4 140264104 AACACA AACA 0 0 1 0 0 0 1
AutG80155NAA15 - 4 140264105 - A 0 0 1 0 0 0 1
AutG80155NAA15 - 4 140272765 G T 0 0 1 0 0 0 1 Positive
AutG80155NAA15 - 4 140283033 T A 0 0 1 0 0 0 1
AutG80155NAA15 - 4 140299939 A T 0 0 1 0 0 0 1
AutG84640USP38 - 4 144134980 G A 0 0 1 0 0 0 1
AutG8467SMARCA5 - 4 144442658 C A 0 0 1 0 0 0 1 Positive
AutG166752FREM3 - 4 144620325 G R 0 0 1 0 0 0 1
AutG2993GYPA - 4 145357639 C G 0 0 1 0 0 0 1
AutG2993GYPA - 4 145358759 A T 0 0 1 0 0 0 1
AutG64399HHIP - 4 145890911 C A 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