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
AutG10055SAE1 - 19 47709838 G A 0 0 1 0 0 0 1
AutG56917MEIS3 - 19 47920081 T C 0 0 1 0 0 0 1
AutG11133KPTN - 19 47986791 G T 0 0 1 0 0 0 1
AutG84215ZNF541 - 19 48059056 A G 0 0 1 0 0 0 1
AutG30846EHD2 - 19 48221860 C Y 0 0 1 0 0 0 1
AutG29997GLTSCR2 - 19 48255802 GCACC G 0 0 1 0 0 0 1
AutG6822SULT2A1 - 19 48386827 C A 0 0 1 0 0 0 1
AutG64100ELSPBP1 - 19 48519183 G A 0 0 1 0 0 0 1
AutG55260TMEM143 - 19 48866572 C T 0 0 1 0 0 0 1
AutG83743GRWD1 - 19 48954314 C T 0 0 1 0 0 0 1
AutG114783LMTK3 - 19 48997119 T A 0 0 1 0 0 0 1
AutG114783LMTK3 - 19 48997134 G A 0 0 1 0 0 0 1
AutG114783LMTK3 - 19 49002674 GC G 0 0 1 0 0 0 1
AutG57664PLEKHA4 - 19 49351271 C T 0 0 1 0 0 0 1
AutG57664PLEKHA4 - 19 49355561 - - 0 0 1 0 0 0 1
AutG23645PPP1R15A - 19 49376940 C - 0 0 1 0 0 0 1
AutG581BAX - 19 49459467 C T 0 0 1 0 0 0 1
AutG57030SLC17A7 - 19 49937906 C T 0 0 1 0 0 0 1
AutG58506SCAF1 - 19 50156162 T C 0 0 1 0 0 0 1 Positive
AutG81857MED25 - 19 50333455 C T 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