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
AutG9726ZNF646 - 16 31091869 G A 0 0 1 0 0 0 1
AutG3687ITGAX - 16 31384705 G A 0 0 1 0 0 0 1
AutG1339COX6A2 - 16 31439149 A G 0 0 1 0 0 0 1
AutG124411ZNF720 - 16 31791007 A G 0 0 1 0 0 0 1
AutG400533FLJ26245 - 16 35174654 G C 0 0 1 0 0 0 1
AutG55737VPS35 - 16 46716048 T C 0 0 1 0 0 0 1 Positive
AutG91807MYLK3 - 16 46766161 C A 0 0 1 0 0 0 1
AutG10294DNAJA2 - 16 47007418 G A 0 0 1 0 0 0 1
AutG5257PHKB - 16 47614206 C G 0 0 1 0 0 0 1 Positive
AutG94160ABCC12 - 16 48174756 T C 0 0 1 0 0 0 1
AutG23090ZNF423 - 16 49672661 C G 0 0 1 0 0 0 1
AutGCNEP1R1 - 16 50068228 C A 0 0 1 0 0 0 1
AutG64282PAPD5 - 16 50263085 G A 0 0 1 0 0 0 1
AutG124460SNX20 - 16 50707926 T C 0 0 1 0 0 0 1
AutG100505619LOC100505619 - 16 52433187 T C 0 0 1 0 0 0 1
AutG5934RBL2 - 16 53487404 C T 0 0 1 0 0 0 1
AutG6530SLC6A2 - 16 55703492 C T 0 0 1 0 0 0 1 Positive
AutG2775GNAO1 - 16 56388838 G A 0 0 1 0 0 0 1 Positive
AutG6559SLC12A3 - 16 56920988 G A 0 0 1 0 0 0 1
AutG221184CPNE2 - 16 57157358 C G 0 0 1 0 0 0 1 Positive

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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