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
AutG7088TLE1 - 9 84199163 C T 0 0 1 0 0 0 1
AutGSPATA31D1 - 9 84607958 A G 0 0 1 0 0 0 1
AutG389763FAM75D1 - 9 85119714 T C 0 0 1 0 0 0 1
AutG389763FAM75D1 - 9 85574932 A C 0 0 1 0 0 0 1
AutG158158RASEF - 9 85677691 T C 0 0 1 0 0 0 1
AutG257019FRMD3 - 9 85926860 A G 0 0 1 0 0 0 1 Positive
AutG55582KIF27 - 9 86518307 C T 0 0 1 0 0 0 1
AutG3190HNRNPK - 9 86585713 C T 0 0 1 0 0 0 1
AutG4915NTRK2 - 9 87338598 G T 0 0 1 0 0 0 1 Positive
AutG1612DAPK1 - 9 90264933 G A 0 0 1 0 0 0 1
AutG1612DAPK1 - 9 90301541 C T 0 0 1 0 0 0 1
AutG79048SECISBP2 - 9 91964798 C G 0 0 1 0 0 0 1
AutG286370LOC286370 - 9 93029424 G T 0 0 1 0 0 0 1
AutG340515LOC340515 - 9 93227470 A G 0 0 1 0 0 0 1
AutG4783NFIL3 - 9 94172880 A C 0 0 1 0 0 0 1
AutG401541CENPP - 9 95100025 C A 0 0 1 0 0 0 1
AutG4969OGN - 9 95155495 TAAAC T 0 0 1 0 0 0 1
AutG1842ECM2 - 9 95285164 A C 0 0 1 0 0 0 1
AutG64768IPPK - 9 95432255 CTT CTTT 0 0 1 0 0 0 1
AutG64768IPPK - 9 95467858 A C 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