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
AutG6597SMARCA4 - 19 11096936 C G 0 0 0 1 0 0 1 Positive
AutG100529855ZNF625-ZNF20 - 19 12246720 C T 0 0 0 1 0 0 1
AutG22983MAST1 - 19 12977649 G A 0 0 0 1 0 0 1
AutG23476BRD4 - 19 15353791 G A 0 0 0 1 0 0 1
AutG93323HAUS8 - 19 17160882 C T 0 0 0 1 0 0 1
AutG23025UNC13A - 19 17720779 C T 0 0 0 1 0 0 1
AutG23025UNC13A - 19 17768899 C G 0 0 0 1 0 0 1
AutG5296PIK3R2 - 19 18273859 G A 0 0 0 1 0 0 1 Positive
AutG56242ZNF253 - 19 20003524 A T 0 0 0 1 0 0 1
AutG933CD22 - 19 35832660 G A 0 0 0 1 0 0 1
AutG374897SBSN - 19 36018184 G A 0 0 0 1 0 0 1
AutG84964ALKBH6 - 19 36505106 A G 0 0 0 1 0 0 1
AutG5714PSMD8 - 19 38867064 C G 0 0 0 1 0 0 1
AutG57716PRX - 19 40900677 C T 0 0 0 1 0 0 1
AutG57731SPTBN4 - 19 41012241 C T 0 0 0 1 0 0 1
AutG79934ADCK4 - 19 41206317 G A 0 0 0 1 0 0 1
AutG1553CYP2A13 - 19 41594888 G A 0 0 0 1 0 0 1 Positive
AutG23152CIC - 19 42792016 C T 0 0 0 1 0 0 1
AutG23211ZC3H4 - 19 47584864 T A 0 0 0 1 0 0 1 Positive
- 19 47844626 C T 0 0 0 1 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