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
AutG350383GPR142 - 17 72366761 G A 0 0 0 0 1 0 1
AutG9744ACAP1 - 17 7251713 C T 0 0 0 0 1 0 1
AutG283987C17orf28 - 17 72957964 A G 0 0 0 0 1 0 1
AutG79902NUP85 - 17 73221527 G A 0 0 0 0 1 0 1
AutG283989TSEN54 - 17 73520380 C T 0 0 0 0 1 0 1
AutG85302FBF1 - 17 73915803 G A 0 0 0 0 1 0 1
AutG51ACOX1 - 17 73944496 G A 0 0 0 0 1 0 1
AutG10801SEPT9 - 17 75398290 C T 0 0 0 0 1 0 1
AutG8632DNAH17 - 17 76420174 G A 0 0 0 0 1 0 1 Positive
AutG22994AZI1 - 17 79171545 G C 0 0 0 0 1 0 1
AutG80233C17orf70 - 17 79517729 G A 0 0 0 0 1 0 1
AutG83882TSPAN10 - 17 79612633 T C 0 0 0 0 1 0 1
AutG2873GPS1 - 17 80014816 G A 0 0 0 0 1 0 1 Positive
AutG59344ALOXE3 - 17 8021612 C A 0 0 0 0 1 0 1
AutG26502NARF - 17 80439004 A G 0 0 0 0 1 0 1
AutG5187PER1 - 17 8052884 - - 0 0 0 0 1 0 1 Positive
AutG361AQP4 - 18 24436233 A G 0 0 0 0 1 0 1
AutG1828DSG1 - 18 28926066 T C 0 0 0 0 1 0 1
AutG57565KLHL14 - 18 30351301 C A 0 0 0 0 1 0 1
AutG80816ASXL3 - 18 31326012 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