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
AutG54464XRN1 - 3 142139978 - T 0 0 1 0 0 0 1
AutGU2SURP - 3 142733223 A G 0 0 1 0 0 0 1 Positive
AutG9435CHST2 - 3 142839813 G C 0 0 1 0 0 0 1 Positive
AutG57088PLSCR4 - 3 146107178 T G 0 0 1 0 0 0 1
AutG7545ZIC1 - 3 148141155 G C 0 0 1 0 0 0 1
AutG1359CPA3 - 3 148614417 C T 0 0 1 0 0 0 1
AutG6596HLTF - 3 148773129 T W 0 0 1 0 0 0 1
AutG1356CP - 3 148896396 C G 0 0 1 0 0 0 1 Positive
AutG51714SELT - 3 150340799 TCTGATGA T 0 0 1 0 0 0 1
AutG29909GPR171 - 3 150916649 A G 0 0 1 0 0 0 1
AutG29909GPR171 - 3 150916906 TA TAA 0 0 1 0 0 0 1
AutG53829P2RY13 - 3 151046382 T C 0 0 1 0 0 0 1
AutG344752AADACL2 - 3 151451960 C T 0 0 1 0 0 0 1
AutG13AADAC - 3 151538186 A C 0 0 1 0 0 0 1 Positive
AutG4154MBNL1 - 3 152132749 A G 0 0 1 0 0 0 1 Positive
AutG5028P2RY1 - 3 152554279 T C 0 0 1 0 0 0 1
AutG4311MME - 3 154834771 T C 0 0 1 0 0 0 1 Positive
AutG23007PLCH1 - 3 155199428 G A 0 0 1 0 0 0 1
AutG23007PLCH1 - 3 155208647 G C 0 0 1 0 0 0 1 Positive
AutG8833GMPS - 3 155615774 G T 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