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
AutG54790TET2 - 4 106155888 G T 0 0 1 0 0 0 1 Positive
AutG54790TET2 - 4 106157491 G A 0 0 1 0 0 0 1
AutG54790TET2 - 4 106196675 C T 0 0 1 0 0 0 1
AutG27068PPA2 - 4 106290837 T A 0 0 1 0 0 0 1
AutG79807GSTCD - 4 106640339 T C 0 0 1 0 0 0 1
AutG93627TBCK - 4 107080897 G A 0 0 1 0 0 0 1
AutG93627TBCK - 4 107165814 G C 0 0 1 0 0 0 1 Positive
AutG93627TBCK - 4 107168437 G C 0 0 1 0 0 0 1
AutG100507096LOC100507096 - 4 107565519 G A 0 0 1 0 0 0 1
AutG51176LEF1 - 4 108984799 C T 0 0 1 0 0 0 1
AutG84570COL25A1 - 4 109790273 * 1D, -T 0 0 1 0 0 0 1
AutG10692RRH - 4 110763634 A G 0 0 1 0 0 0 1
AutG79071ELOVL6 - 4 110980766 G A 0 0 1 0 0 0 1
AutG5308PITX2 - 4 112456987 T C 0 0 1 0 0 0 1
AutG5308PITX2 - 4 113047913 G A 0 0 1 0 0 0 1
AutG92610TIFA - 4 113199374 G A 0 0 1 0 0 0 1
AutG92610TIFA - 4 113199493 T G 0 0 1 0 0 0 1
AutG80216ALPK1 - 4 113303646 G A 0 0 1 0 0 0 1
AutG287ANK2 - 4 114214640 C G 0 0 1 0 0 0 1
AutG287ANK2 - 4 114232545 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