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
AutG7881KCNAB1 - 3 156069040 G C 0 0 1 0 0 0 1
AutG85476GFM1 - 3 158380348 A T 0 0 1 0 0 0 1
AutG29970SCHIP1 - 3 159604035 C Y 0 0 1 0 0 0 1
AutG51068NMD3 - 3 160960410 G A 0 0 1 0 0 0 1
AutGSPTSSB - 3 161098738 T C 0 0 1 0 0 0 1
AutG131149OTOL1 - 3 161217077 A AG 0 0 1 0 0 0 1
AutG647107LOC647107 - 3 163391741 G A 0 0 1 0 0 0 1
AutG590BCHE - 3 165645966 C A 0 0 1 0 0 0 1
AutG590BCHE - 3 166468364 T C 0 0 1 0 0 0 1
AutG79740ZBBX - 3 166958690 G T 0 0 1 0 0 0 1
AutG2122MECOM - 3 168819995 A G 0 0 1 0 0 0 1 Positive
AutG2122MECOM - 3 168838891 C T 0 0 1 0 0 0 1 Positive
AutGACTRT3 - 3 169485485 C T 0 0 1 0 0 0 1
AutG79782LRRC31 - 3 169579555 T A 0 0 1 0 0 0 1
AutG6498SKIL - 3 170078902 C G 0 0 1 0 0 0 1
AutG6498SKIL - 3 170079096 A C 0 0 1 0 0 0 1
AutG6514SLC2A2 - 3 170720420 G A 0 0 1 0 0 0 1
AutG64778FNDC3B - 3 172048426 C T 0 0 1 0 0 0 1
AutG64778FNDC3B - 3 172085628 C G 0 0 1 0 0 0 1
AutG1894ECT2 - 3 172504293 G 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