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
AutG6862T - 6 166606304 C T 0 0 1 0 0 0 1
AutG4301MLLT4 - 6 168276026 G A 0 0 1 0 0 0 1
AutG4301MLLT4 - 6 168298969 G A 0 0 1 0 0 0 1 Positive
AutG64094SMOC2 - 6 169473130 G T 0 0 1 0 0 0 1
AutG253769WDR27 - 6 170065622 G A 0 0 1 0 0 0 1
AutG6991TCTE3 - 6 170140390 ATC A 0 0 1 0 0 0 1
AutG55780C6orf70 - 6 170175414 C T 0 0 1 0 0 0 1
AutG84498FAM120B - 6 170627963 A C 0 0 1 0 0 0 1
AutG84498FAM120B - 6 170632250 C G 0 0 1 0 0 0 1
AutG5575PRKAR1B - 7 624187 G A 0 0 1 0 0 0 1 Positive
AutG5575PRKAR1B - 7 720252 G A 0 0 1 0 0 0 1
AutG54919HEATR2 - 7 801482 C T 0 0 1 0 0 0 1
AutG11033ADAP1 - 7 944768 C T 0 0 1 0 0 0 1 Positive
AutG115330GPR146 - 7 1097719 A R 0 0 1 0 0 0 1
AutG79778MICALL2 - 7 1476392 G A 0 0 1 0 0 0 1
AutG26173INTS1 - 7 1542695 G A 0 0 1 0 0 0 1 Positive
AutG26173INTS1 - 7 1542787 CT C 0 0 1 0 0 0 1
AutG8379MAD1L1 - 7 2041753 G A 0 0 1 0 0 0 1
AutG8662EIF3B - 7 2416614 C G 0 0 1 0 0 0 1
AutG3955LFNG - 7 2565873 C T 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