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
AutG57198ATP8B2 - 1 154321590 G A 0 0 1 0 0 0 1
AutG57198ATP8B2 - 1 154317610 A G 0 0 1 0 0 0 1 Positive
AutG57198ATP8B2 - 1 154307007 C T 0 0 1 0 0 0 1
AutG89872AQP10 - 1 154296135 C A 0 0 1 0 0 0 1
AutG7170TPM3 - 1 154143940 C T 0 0 1 0 0 0 1
AutG200186CRTC2 - 1 153923769 G GT 0 0 1 0 0 0 1
AutGCHTOP - 1 153617559 G A 0 0 1 0 0 0 1
AutG6271S100A1 - 1 153604222 G A 0 0 1 0 0 0 1
AutG6700SPRR2A - 1 153029019 A G 0 0 1 0 0 0 1
AutG6703SPRR2D - 1 153012685 T A 0 0 1 0 0 0 1
AutG353131LCE1A - 1 152800137 G A 0 0 1 0 0 0 1
AutG388698FLG2 - 1 152327810 C T 0 0 1 0 0 0 1
AutG6282S100A11 - 1 152012715 C T 0 0 1 0 0 0 1
AutG6282S100A11 - 1 152012714 G A 0 0 1 0 0 0 1
AutG6097RORC - 1 151787862 C G 0 0 1 0 0 0 1 Positive
AutG6097RORC - 1 151783852 C T 0 0 1 0 0 0 1
AutG23126POGZ - 1 151402109 G G/A 0 0 1 0 0 0 1
AutG23126POGZ - 1 151402109 G A 0 0 1 0 0 0 1
AutG23126POGZ - 1 151396736 G T 0 0 1 0 0 0 1
AutG23126POGZ - 1 151384237 T C 0 0 1 0 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