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
AutG887CCKBR - 11 6281224 C T 0 0 1 0 0 0 1
AutG160298C11orf42 - 11 6231119 C T 0 0 1 0 0 0 1
AutG390079OR52E8 - 11 5878672 C A 0 0 1 0 0 0 1
AutG390075OR52N5 - 11 5799207 T C 0 0 1 0 0 0 1
AutG85363TRIM5 - 11 5699639 T C 0 0 1 0 0 0 1
AutG390064OR51I2 - 11 5474867 G A 0 0 1 0 0 0 1
AutG3047HBG1 - 11 5269621 C T 0 0 1 0 0 0 1
AutG23538OR52A1 - 11 5179890 A G 0 0 1 0 0 0 1
AutG5002SLC22A18 - 11 2939260 C T 0 0 1 0 0 0 1
AutG29850TRPM5 - 11 2432681 G A 0 0 1 0 0 0 1
AutG29850TRPM5 - 11 2428988 C Y 0 0 1 0 0 0 1
AutG4046LSP1 - 11 1901434 G A 0 0 1 0 0 0 1
AutG90019SYT8 - 11 1856560 C T 0 0 1 0 0 0 1
AutGMOB2,DUSP8 - 11 1579522 G GT 0 0 1 0 0 0 1
AutG9024BRSK2 - 11 1471005 G C 0 0 1 0 0 0 1
AutG9024BRSK2 - 11 1466811 * 3D, -AGA 0 0 1 0 0 0 1
AutG727897MUC5B - 11 1271969 GCACAACCACCACACC G 0 0 1 0 0 0 1
AutG727897MUC5B - 11 1269758 C T 0 0 1 0 0 0 1
AutG727897MUC5B - 11 1265831 T C 0 0 1 0 0 0 1
AutG727897MUC5B - 11 1264158 T C 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