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
AutG57514ARHGAP31 - 3 119109669 C T 0 0 1 0 0 0 1
AutG56983POGLUT1 - 3 119205717 C T 0 0 1 0 0 0 1 Positive
AutG51365PLA1A - 3 119327736 CT C 0 0 1 0 0 0 1
AutG64091POPDC2 - 3 119367114 G A 0 0 1 0 0 0 1
AutG89876C3orf15 - 3 119427440 C T 0 0 1 0 0 0 1
AutG2932GSK3B - 3 119582433 G T 0 0 1 0 0 0 1 Positive
AutG165829GPR156 - 3 119886113 C T 0 0 1 0 0 0 1
AutG9515STXBP5L - 3 120628487 - - 0 0 1 0 0 0 1
AutG9515STXBP5L - 3 120673792 CG C 0 0 1 0 0 0 1
AutG10721POLQ - 3 121208072 T W 0 0 1 0 0 0 1
AutG10721POLQ - 3 121212507 T C 0 0 1 0 0 0 1
AutG2804GOLGB1 - 3 121413433 C A 0 0 1 0 0 0 1
AutG111ADCY5 - 3 121563915 G - 0 0 1 0 0 0 1
AutG111ADCY5 - 3 121567092 C - 0 0 1 0 0 0 1
AutG846CASR - 3 121976036 T C 0 0 1 0 0 0 1
AutG3836KPNA1 - 3 122215306 C T 0 0 1 0 0 0 1 Positive
AutG54625PARP14 - 3 122422695 A C 0 0 1 0 0 0 1
AutG54437SEMA5B - 3 122646805 G A 0 0 1 0 0 0 1
AutG10954PDIA5 - 3 122864390 T C 0 0 1 0 0 0 1 Positive
AutG111ADCY5 - 3 123049782 C Y 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