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
AutG7007TECTA - 11 120998556 G A 0 0 1 0 0 0 1
AutG7007TECTA - 11 120996340 C T 0 0 1 0 0 0 1
AutG219899TBCEL - 11 120926018 G T 0 0 1 0 0 0 1
AutG2900GRIK4 - 11 120690516 G T 0 0 1 0 0 0 1 Positive
AutG25833POU2F3 - 11 120150577 A G 0 0 1 0 0 0 1
AutG25833POU2F3 - 11 120148899 C T 0 0 1 0 0 0 1
AutG220323OAF - 11 120096386 G C 0 0 1 0 0 0 1 Positive
AutG9099USP2 - 11 119230374 C T 0 0 1 0 0 0 1
AutG4162MCAM - 11 119185283 C Y 0 0 1 0 0 0 1
AutG867CBL - 11 119148951 G A 0 0 1 0 0 0 1
AutG79671NLRX1 - 11 119045475 C Y 0 0 1 0 0 0 1
AutG64137ABCG4 - 11 119031617 C T 0 0 1 0 0 0 1
AutG3145HMBS - 11 118959833 C T 0 0 1 0 0 0 1
AutG338657CCDC84 - 11 118868936 G A 0 0 1 0 0 0 1 Positive
AutG283149BCL9L - 11 118779312 G A 0 0 1 0 0 0 1
AutG283149BCL9L - 11 118769835 G A 0 0 1 0 0 0 1
AutG11181TREH - 11 118532369 C M 0 0 1 0 0 0 1
AutGKMT2A - 11 118374300 CTG C 0 0 1 0 0 0 1
AutG4297MLL - 11 118373178 C T 0 0 1 0 0 0 1
AutGKMT2A - 11 118371708 AG 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