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
AutG6326SCN2A - 2 166245189 TCC TC 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166245191 C - 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166245634 C C/T 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166246026 CAA C 0 0 1 0 0 0 1
AutG80034CSRNP3 - 2 166253120 - - 0 0 1 0 0 0 1
AutG80034CSRNP3 - 2 166514338 G A 0 0 1 0 0 0 1
AutG2591GALNT3 - 2 166613697 G A 0 0 1 0 0 0 1 Positive
AutG6323SCN1A - 2 166848006 T Y 0 0 1 0 0 0 1
AutG6323SCN1A - 2 166848071 - - 0 0 1 0 0 0 1
AutG6323SCN1A - 2 166848071 G R 0 0 1 0 0 0 1
AutG6323SCN1A - 2 166848294 CTG C 0 0 1 0 0 0 1
AutG6323SCN1A - 2 166848859 C G 0 0 1 0 0 0 1
AutG6323SC1A - 2 167139760 T - 0 0 1 0 0 0 1
AutG6323SC1A - 2 167139825 G - 0 0 1 0 0 0 1
AutG6335SCN9A - 2 167145151 C T 0 0 1 0 0 0 1
AutG6332SCN7A - 2 167284437 G T 0 0 1 0 0 0 1
AutG6332SCN7A - 2 167322357 G A 0 0 1 0 0 0 1
AutG129446XIRP2 - 2 168103257 T C 0 0 1 0 0 0 1
AutG129446XIRP2 - 2 168103957 C T 0 0 1 0 0 0 1
AutG253782LASS6 - 2 169417831 A G 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