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
AutG94059LEG9 - 19 54973833 G A 0 0 1 0 0 0 1
AutG11027LILRA2 - 19 55098764 T C 0 0 1 0 0 0 1 Positive
AutG11024LILRA1 - 19 55107336 C T 0 0 1 0 0 0 1
AutG11024LILRA1 - 19 55107343 T C 0 0 1 0 0 0 1
AutG199713NLRP7 - 19 55442030 G A 0 0 1 0 0 0 1
AutG199713NLRP7 - 19 55450865 T C 0 0 1 0 0 0 1
AutG199713NLRP7 - 19 55452898 G T 0 0 1 0 0 0 1 Positive
AutG84446BRSK1 - 19 55805700 GA G 0 0 1 0 0 0 1
AutG84446BRSK1 - 19 55820037 A G 0 0 1 0 0 0 1 Positive
AutG89887ZNF628 - 19 55995110 A G 0 0 1 0 0 0 1
AutG284297SSC5D - 19 56029616 C A 0 0 1 0 0 0 1
AutG11338U2AF2 - 19 56178953 C G 0 0 1 0 0 0 1
AutG204801NLRP11 - 19 56320401 C T 0 0 1 0 0 0 1
AutG147945NLRP4 - 19 56370219 A C 0 0 1 0 0 0 1
AutG126206NLRP5 - 19 56539717 C G 0 0 1 0 0 0 1
AutG5178PEG3 - 19 57322607 A C 0 0 1 0 0 0 1
AutG100073347MIMT1 - 19 57359668 C T 0 0 1 0 0 0 1
AutG100073347MIMT1 - 19 57359669 G A 0 0 1 0 0 0 1
AutG57663USP29 - 19 57641305 T C 0 0 1 0 0 0 1
AutG10794ZNF460 - 19 57803573 T A 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