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
AutG84617TUBB6 - 18 12325217 G C 0 0 1 0 0 0 1
AutG56907SPIRE1 - 18 12540399 G A 0 0 1 0 0 0 1
AutG55125CEP192 - 18 13019104 A G 0 0 1 0 0 0 1
AutG8731RNMT - 18 13746286 A G 0 0 1 0 0 0 1
AutGANKRD20A5P - 18 14216251 A T 0 0 1 0 0 0 1
AutG6093ROCK1 - 18 18562716 CACTTAC CAC 0 0 1 0 0 0 1
AutG6093ROCK1 - 18 18566956 T C 0 0 1 0 0 0 1
AutG6093ROCK1 - 18 18572849 G R 0 0 1 0 0 0 1
AutG80000GREB1L - 18 19093823 C T 0 0 1 0 0 0 1
AutG114799ESCO1 - 18 19154007 A G 0 0 1 0 0 0 1
AutG57534MIB1 - 18 19444568 C T 0 0 1 0 0 0 1 Positive
AutG64693CTAGE1 - 18 20266482 A T 0 0 1 0 0 0 1
AutG4864NPC1 - 18 21134914 G A 0 0 1 0 0 0 1
AutG3909LAMA3 - 18 21427428 C T 0 0 1 0 0 0 1
AutG125488TTC39C - 18 21635210 G A 0 0 1 0 0 0 1
AutG284252KCTD1 - 18 24060769 T C 0 0 1 0 0 0 1
AutG1000CDH2 - 18 25589713 G A 0 0 1 0 0 0 1 Positive
AutG1829DSG2 - 18 29099844 G A 0 0 1 0 0 0 1 Positive
AutG22878TRAPPC8 - 18 29444743 T Y 0 0 1 0 0 0 1
AutG64762FAM59A - 18 29867104 G 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