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
AutG3643INSR - 19 7119480 G A 0 0 1 0 0 0 1
AutG92960PEX11G - 19 7553881 C A 0 0 1 0 0 0 1
AutG57662KIAA1543 - 19 7675609 C T 0 0 1 0 0 0 1
AutGCAMSAP3 - 19 7677972 - - 0 0 1 0 0 0 1
AutG440508CLEC4GP1 - 19 7891519 G A 0 0 1 0 0 0 1
AutG84467FBN3 - 19 8176973 T C 0 0 1 0 0 0 1
AutGCERS4 - 19 8320764 G A 0 0 1 0 0 0 1
AutG51293CD320 - 19 8367787 T C 0 0 1 0 0 0 1
AutG256949KANK3 - 19 8387815 A G 0 0 1 0 0 0 1
AutG51129ANGPTL4 - 19 8434160 T G 0 0 1 0 0 0 1 Positive
- 19 8495673 G T 0 0 1 0 0 0 1
AutG84106PRAM1 - 19 8555752 C CT 0 0 1 0 0 0 1
AutG84106PRAM1 - 19 8555989 C T 0 0 1 0 0 0 1
AutG4542MYO1F - 19 8618092 C T 0 0 1 0 0 0 1
AutG81794ADAMTS10 - 19 8645777 CTAGTGGCCA C 0 0 1 0 0 0 1
AutG94025MUC16 - 19 8976388 G GTGC 0 0 1 0 0 0 1
AutG94025MUC16 - 19 9060456 G T 0 0 1 0 0 0 1
AutG94025MUC16 - 19 9074510 T W 0 0 1 0 0 0 1
AutG94025MUC16 - 19 9084772 G C 0 0 1 0 0 0 1
AutG84527ZNF559 - 19 9451802 A T 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