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
AutG54790TET2 - 4 106156163 G A 0 0 0 0 1 0 1
AutG55013CCDC109B - 4 110606406 G A 0 0 0 0 1 0 1
AutG287ANK2 - 4 114279674 C A 0 0 0 0 1 0 1
AutG287ANK2 - 4 114294463 G A 0 0 0 0 1 0 1
AutG79642ARSJ - 4 114824312 C G 0 0 0 0 1 0 1
AutG9348NDST3 - 4 119154209 T A 0 0 0 0 1 0 1
AutG9871SEC24D - 4 119673889 G A 0 0 0 0 1 0 1
AutG132332TMEM155 - 4 122682720 C T 0 0 0 0 1 0 1
AutG79633FAT4 - 4 126320038 A G 0 0 0 0 1 0 1
AutG79633FAT4 - 4 126373570 C T 0 0 0 0 1 0 1
AutG10733PLK4 - 4 128817999 A T 0 0 0 0 1 0 1
AutG54510PCDH18 - 4 138785309 C T 0 0 0 0 1 0 1
AutG55534MAML3 - 4 140811293 C T 0 0 0 0 1 0 1
AutG64399HHIP - 4 145793760 C T 0 0 0 0 1 0 1
AutG54726OTUD4 - 4 146080671 G A 0 0 0 0 1 0 1
AutG5458POU4F2 - 4 147561147 C A 0 0 0 0 1 0 1
AutG5188PET112L - 4 152622545 G T 0 0 0 0 1 0 1
AutG201798TIGD4 - 4 153691012 C A 0 0 0 0 1 0 1
AutG23321TRIM2 - 4 154216846 G A 0 0 0 0 1 0 1 Positive
AutG166863RBM46 - 4 155719189 T G 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