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
AutG57728WDR19 - 4 39217743 G A 0 0 0 1 0 0 1
AutG323APBB2 - 4 40818170 C G 0 0 0 1 0 0 1 Positive
AutG3791KDR - 4 55953925 C T 0 0 0 1 0 0 1 Positive
AutG55763EXOC1 - 4 56756552 G T 0 0 0 1 0 0 1 Positive
AutG5431POLR2B - 4 57889615 G T 0 0 0 1 0 0 1
AutG2638GC - 4 72629236 A G 0 0 0 1 0 0 1
AutG166824RASSF6 - 4 74450943 C T 0 0 0 1 0 0 1
AutG9908G3BP2 - 4 76580350 A G 0 0 0 1 0 0 1
AutG5470PPEF2 - 4 76812814 G T 0 0 0 1 0 0 1
AutG246175CNOT6L - 4 78665893 G A 0 0 0 1 0 0 1
AutG79725THAP9 - 4 83839760 C A 0 0 0 1 0 0 1
AutG113510HELQ - 4 84342874 C T 0 0 0 1 0 0 1
AutG166815TIGD2 - 4 90034383 G T 0 0 0 1 0 0 1 Positive
AutG22915MMRN1 - 4 90874301 C T 0 0 0 1 0 0 1 Positive
AutG125ADH1B - 4 100237436 T G 0 0 0 1 0 0 1
AutG1062CENPE - 4 104066794 C T 0 0 0 1 0 0 1
AutG54790TET2 - 4 106180819 G T 0 0 0 1 0 0 1 Positive
AutG84570COL25A1 - 4 109762751 C T 0 0 0 1 0 0 1
AutG132612ADAD1 - 4 123342540 G A 0 0 0 1 0 0 1 Positive
AutG2549GAB1 - 4 144258315 C G 0 0 0 1 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