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
AutGLOC101060019 - 2 67153950 G A 0 0 0 0 1 0 1
AutG119ADD2 - 2 70905837 C T 0 0 0 0 1 0 1
AutG525ATP6V1B1 - 2 71190722 G A 0 0 0 0 1 0 1 Positive
AutG3099HK2 - 2 75101437 G A 0 0 0 0 1 0 1
AutG80059LRRTM4 - 2 76783069 A G 0 0 0 0 1 0 1
AutG388965FUNDC2P2 - 2 83390353 C A 0 0 0 0 1 0 1
AutG1768DNAH6 - 2 84928399 C A 0 0 0 0 1 0 1
AutG8869ST3GAL5 - 2 86067277 C A 0 0 0 0 1 0 1
AutG100616499MIR4435-1 - 2 87865683 C G 0 0 0 0 1 0 1
AutG200523C2orf51 - 2 88828961 G A 0 0 0 0 1 0 1
AutG8195MKKS - 20 10389422 T C 0 0 0 0 1 0 1
AutG8195MKKS - 20 10393304 G T 0 0 0 0 1 0 1
AutG8195MKKS - 20 10393443 CT C 0 0 0 0 1 0 1
AutG8195MKKS - 20 10394147 C T 0 0 0 0 1 0 1
AutG140862ISM1 - 20 13251316 T C 0 0 0 0 1 0 1
AutG245939DEFB128 - 20 168558 A G 0 0 0 0 1 0 1
AutG57186RALGAPA2 - 20 21026325 G A 0 0 0 0 1 0 1
AutG57136C20orf3 - 20 24952147 G A 0 0 0 0 1 0 1
AutG22981NINL - 20 25439036 G A 0 0 0 0 1 0 1
AutG164395TTLL9 - 20 30497577 G A 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