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
AutG57565KLHL14 - 18 30260416 G A 0 0 1 0 0 0 1 Positive
AutG57565KLHL14 - 18 30349680 T C 0 0 1 0 0 0 1 Positive
AutG57565KLHL14 - 18 30349686 C A 0 0 1 0 0 0 1 Positive
AutG57565KLHL14 - 18 30414209 A T 0 0 1 0 0 0 1
AutG374864C18orf34 - 18 31100190 A G 0 0 1 0 0 0 1
AutG80816ASXL3 - 18 31322918 C T 0 0 1 0 0 0 1
AutG80816ASXL3 - 18 31323955 - C 0 0 1 0 0 0 1
AutG80816ASXL3 - 18 31323981 C CT 0 0 1 0 0 0 1
AutG80816ASXL3 - 18 31324717 C T 0 0 1 0 0 0 1
AutG8715NOL4 - 18 31567743 A G 0 0 1 0 0 0 1
AutG8715NOL4 - 18 31791701 A G 0 0 1 0 0 0 1
AutG55197RPRD1A - 18 33606959 C T 0 0 1 0 0 0 1
AutG55197RPRD1A - 18 33611043 C A 0 0 1 0 0 0 1 Positive
AutG80206FHOD3 - 18 33877804 C T 0 0 1 0 0 0 1
AutG56853CELF4 - 18 34855162 C A 0 0 1 0 0 0 1
AutG56853CELF4 - 18 35094643 G A 0 0 1 0 0 0 1
AutG647946LOC647946 - 18 36897149 A T 0 0 1 0 0 0 1
AutG647946LOC647946 - 18 38286248 T C 0 0 1 0 0 0 1
AutG6860SYT4 - 18 40854059 G A 0 0 1 0 0 0 1
AutG26040SETBP1 - 18 42531877 G A 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