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
AutG23431AP4E1 - 15 51294757 C T 0 0 1 0 0 0 1
AutG23312DMXL2 - 15 51763583 G C 0 0 1 0 0 0 1
AutG23312DMXL2 - 15 51766611 C T 0 0 1 0 0 0 1
AutG23312DMXL2 - 15 51778560 TCTTA T 0 0 1 0 0 0 1
AutG123169LEO1 - 15 52242140 G A 0 0 1 0 0 0 1
AutG10681GNB5 - 15 52427874 T C 0 0 1 0 0 0 1
AutG55930MYO5C - 15 52521530 A G 0 0 1 0 0 0 1
AutG4644MYO5A - 15 52718114 A C 0 0 1 0 0 0 1
AutGFAM214A - 15 52900800 A G 0 0 1 0 0 0 1 Positive
AutG3175ONECUT1 - 15 53081003 T C 0 0 1 0 0 0 1 Positive
AutG64864RFX7 - 15 56387330 G A 0 0 1 0 0 0 1
AutG64864RFX7 - 15 56387798 C CT 0 0 1 0 0 0 1
AutG6938TCF12 - 15 57355957 A - 0 0 1 0 0 0 1
AutG84952CGNL1 - 15 57810657 G C 0 0 1 0 0 0 1 Positive
AutG84952CGNL1 - 15 57815788 G T 0 0 1 0 0 0 1
AutG145781GCOM1 - 15 57913816 C T 0 0 1 0 0 0 1 Positive
AutGPOLR2M - 15 58001002 * 3D, -GAA 0 0 1 0 0 0 1
AutG102ADAM10 - 15 58903342 A G 0 0 1 0 0 0 1
AutG102ADAM10 - 15 58971416 G A 0 0 1 0 0 0 1 Positive
AutG4643MYO1E - 15 59430484 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