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
AutG8396PIP4K2B - 17 36927464 C T 0 0 0 1 0 0 1
AutG7067THRA - 17 38243055 G A 0 0 0 1 0 0 1
AutG3881KRT31 - 17 39551197 G A 0 0 0 1 0 0 1 Positive
AutG3868KRT16 - 17 39766665 A G 0 0 0 1 0 0 1 Positive
AutG2670GFAP - 17 42988056 C T 0 0 0 1 0 0 1
AutG4353MPO - 17 56356401 A C 0 0 0 1 0 0 1 Positive
AutG124535HSF5 - 17 56536222 C T 0 0 0 1 0 0 1
AutG8493PPM1D - 17 58740376 G A 0 0 0 1 0 0 1
AutG2688GH1 - 17 61994789 G C 0 0 0 1 0 0 1
AutG22901ARSG - 17 66303587 G C 0 0 0 1 0 0 1
AutG26151NAT9 - 17 72769180 T G 0 0 0 1 0 0 1
AutG85302FBF1 - 17 73906883 C G 0 0 0 1 0 0 1
AutG84074QRICH2 - 17 74288222 G C 0 0 0 1 0 0 1
AutG8632DNAH17 - 17 76475120 G A 0 0 0 1 0 0 1 Positive
AutG100996295DNAH17-AS1 - 17 76498818 G A 0 0 0 1 0 0 1
AutG8632DNAH17 - 17 76521156 T A 0 0 0 1 0 0 1
AutG9775EIF4A3 - 17 78113792 G C 0 0 0 1 0 0 1
AutG3607FOXK2 - 17 80559225 G A 0 0 0 1 0 0 1
AutG284207METRNL - 17 81050796 C T 0 0 0 1 0 0 1
AutG7525YES1 - 18 756622 G A 0 0 0 1 0 0 1 Positive

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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