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
AutG3037HAS2 - 8 122641512 G C 0 0 1 0 0 0 1
AutGHAS2-AS1 - 8 123267514 G A 0 0 1 0 0 0 1
AutGTBC1D31 - 8 124113166 T A 0 0 1 0 0 0 1
AutG157769FAM91A1 - 8 124787443 C T 0 0 1 0 0 0 1
AutG11236RNF139 - 8 125499557 C T 0 0 1 0 0 0 1
AutG9788MTSS1 - 8 125568650 T C 0 0 1 0 0 0 1
AutG56169GSDMC - 8 130760786 A T 0 0 1 0 0 0 1
AutG50807ASAP1 - 8 131179874 A G 0 0 1 0 0 0 1
AutG114ADCY8 - 8 131949457 C A 0 0 1 0 0 0 1
AutG23167EFR3A - 8 132952779 G A 0 0 1 0 0 0 1 Positive
AutG23167EFR3A - 8 132982744 T C 0 0 1 0 0 0 1 Positive
AutG3786KCNQ3 - 8 133192475 G A 0 0 1 0 0 0 1 Positive
AutG7038TG - 8 133935689 C T 0 0 1 0 0 0 1
AutG10397NDRG1 - 8 134386240 A T 0 0 1 0 0 0 1
AutG10656KHDRBS3 - 8 137887066 G A 0 0 1 0 0 0 1
AutG51059FAM135B - 8 139301204 T C 0 0 1 0 0 0 1
AutG83696TRAPPC9 - 8 141381255 G A 0 0 1 0 0 0 1 Positive
AutG22898DENND3 - 8 142170768 G A 0 0 1 0 0 0 1
AutG22898DENND3 - 8 142200355 G GGT 0 0 1 0 0 0 1
AutG203062TSNARE1 - 8 143356191 G R 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