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
AutG83482SCRT1 - 8 145557230 G A 0 0 1 0 0 0 1
AutG26233FBXL6 - 8 145580321 C T 0 0 1 0 0 0 1
AutG90990KIFC2 - 8 145693250 G A 0 0 1 0 0 0 1
AutG113655MFSD3 - 8 145735789 C T 0 0 1 0 0 0 1
AutG9684LRRC14 - 8 145745111 T C 0 0 1 0 0 0 1
AutG9684LRRC14 - 8 145746113 G A 0 0 1 0 0 0 1
AutG58500ZNF250 - 8 146107658 T C 0 0 1 0 0 0 1
AutG2298FOXD4 - 9 117998 G T 0 0 1 0 0 0 1
AutG81704DOCK8 - 9 339101 T C/T 0 0 1 0 0 0 1
AutG81704DOCK8 - 9 452034 GT G 0 0 1 0 0 0 1
AutG23189KANK1 - 9 712508 G A 0 0 1 0 0 0 1 Positive
AutG10655DMRT2 - 9 1056868 C T 0 0 1 0 0 0 1
AutG10655DMRT2 - 9 1057229 A G 0 0 1 0 0 0 1 Positive
AutG5991RFX3 - 9 3248164 TA C 0 0 1 0 0 0 1
AutG5991RFX3 - 9 3263017 G T 0 0 1 0 0 0 1
AutG55064C9orf68 - 9 4605416 T W 0 0 1 0 0 0 1
AutG57589KIAA1432 - 9 5769178 A R 0 0 1 0 0 0 1
AutG5789PTPRD - 9 9605253 A G 0 0 1 0 0 0 1
AutG5789PTPRD - 9 9674564 C T 0 0 1 0 0 0 1
AutG8777MPDZ - 9 13140074 A G 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