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 36955630 G C 0 0 1 0 0 0 1
AutG57125PLXDC1 - 17 37296037 C Y 0 0 1 0 0 0 1
AutG84961FBXL20 - 17 37460701 G A 0 0 1 0 0 0 1
AutG10948STARD3 - 17 37815024 C T 0 0 1 0 0 0 1
AutG5709PSMD3 - 17 38146011 C T 0 0 1 0 0 0 1 Positive
AutG9862MED24 - 17 38178730 C T 0 0 1 0 0 0 1 Positive
AutG1236CCR7 - 17 38715177 C T 0 0 1 0 0 0 1
AutG6605SMARCE1 - 17 38801873 T C 0 0 1 0 0 0 1
AutG147183KRT25 - 17 38910124 C A 0 0 1 0 0 0 1
AutG81850KRTAP1-3 - 17 39190953 G C 0 0 1 0 0 0 1
AutG81850KRTAP1-3 - 17 39190954 G A 0 0 1 0 0 0 1
AutG85295KRTAP2-3 - 17 39216220 G A 0 0 1 0 0 0 1 Positive
AutG83901KRTAP9-8 - 17 39394306 G A 0 0 1 0 0 0 1
AutG3885KRT34 - 17 39535950 G A 0 0 1 0 0 0 1 Positive
AutG3885KRT34 - 17 39538425 C T 0 0 1 0 0 0 1 Positive
AutG3881KRT31 - 17 39551867 A G 0 0 1 0 0 0 1
AutG8688KRT37 - 17 39577674 G A 0 0 1 0 0 0 1
AutG8687KRT38 - 17 39595033 G C 0 0 1 0 0 0 1
AutG3868KRT16 - 17 39766665 A G 0 0 1 0 0 0 1 Positive
AutG9001HAP1 - 17 39881349 T 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