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
AutG10142AKAP9 - 7 91691610 T A 0 0 1 0 0 0 1 Positive
AutG54467ANKIB1 - 7 92028037 AACTGGTGCTGCCAGAAGATTC A 0 0 1 0 0 0 1
AutG84060C7orf64 - 7 92161752 T G 0 0 1 0 0 0 1
AutG257415FAM133B - 7 92207484 C T 0 0 1 0 0 0 1
AutG219285SAMD9L - 7 92765186 G A 0 0 1 0 0 0 1
AutG55610CCDC132 - 7 92884392 A G 0 0 1 0 0 0 1
AutG2791GNG11 - 7 93565248 C T 0 0 1 0 0 0 1
AutG1278COL1A2 - 7 94039077 C T 0 0 1 0 0 0 1 Positive
AutG23089PEG10 - 7 94293229 G A 0 0 1 0 0 0 1
AutG23089PEG10 - 7 94294003 TC TCC 0 0 1 0 0 0 1
AutG51666ASB4 - 7 95157379 C T 0 0 1 0 0 0 1
AutG1780DYNC1I1 - 7 95661998 A G 0 0 1 0 0 0 1
AutG1750DLX6 - 7 96635679 C T 0 0 1 0 0 0 1
AutG22853LMTK2 - 7 97816289 A G 0 0 1 0 0 0 1 Positive
AutG22853LMTK2 - 7 97823256 C A 0 0 1 0 0 0 1 Positive
AutG8295TRRAP - 7 98478779 G A 0 0 1 0 0 0 1
AutG8295TRRAP - 7 98506430 G A 0 0 1 0 0 0 1 Positive
AutG8295TRRAP - 7 98508792 C T 0 0 1 0 0 0 1
AutG8295TRRAP - 7 98550994 G A 0 0 1 0 0 0 1 Positive
AutG8295TRRAP - 7 98574116 TGAGATAAG TGAGATAAGAGATAAG 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