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
AutGLINC00936 - 12 90460190 T A 0 0 0 0 1 0 1
AutG55785FGD6 - 12 95604078 G A 0 0 0 0 1 0 1
AutG120935CCDC38 - 12 96272113 A G 0 0 0 0 1 0 1
AutG56899ANKS1B - 12 99837570 C T 0 0 0 0 1 0 1
AutG171425CLYBL - 13 100425097 G T 0 0 0 0 1 0 1
AutGMETTL21EP - 13 103597775 A G 0 0 0 0 1 0 1
AutG6555SLC10A2 - 13 103701690 G A 0 0 0 0 1 0 1
AutG2706GJB2 - 13 20763685 AC A 0 0 0 0 1 0 1
AutG10804GJB6 - 13 20796930-931 - T 0 0 0 0 1 0 1
AutG101930748LINC00367 - 13 21522193 G A 0 0 0 0 1 0 1
AutG122042RXFP2 - 13 32366048 C G 0 0 0 0 1 0 1
AutG10129FRY - 13 32785102 G A 0 0 0 0 1 0 1
AutG5983RFC3 - 13 34644306 T C 0 0 0 0 1 0 1
AutG57511COG6 - 13 40661409 G T 0 0 0 0 1 0 1
AutG57511COG6 - 13 40661412 G - 0 0 0 0 1 0 1
AutG55068ENOX1 - 13 43889800 A G 0 0 0 0 1 0 1
AutG83548COG3 - 13 46050463 G T 0 0 0 0 1 0 1
AutG10161LPAR6 - 13 49001180 T A 0 0 0 0 1 0 1
AutG10161LPAR6 - 13 49001183 G T 0 0 0 0 1 0 1
AutG5100PCDH8 - 13 53421358 - - 0 0 0 0 1 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