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
AutGCAPN15 - 16 601435 C T 0 0 1 0 0 0 1
AutGCAPN15 - 16 601654 G A 0 0 1 0 0 0 1
AutG146325C16orf11 - 16 614182 T TC 0 0 1 0 0 0 1
AutG283948NHLRC4 - 16 617668 G A 0 0 1 0 0 0 1
AutG10273STUB1 - 16 731512 A C 0 0 1 0 0 0 1 Positive
AutG146330FBXL16 - 16 745595 T C 0 0 1 0 0 0 1
AutG10232MSLN - 16 818664 G A 0 0 1 0 0 0 1
AutG401827MSLNL - 16 820594 C T 0 0 1 0 0 0 1
AutG401827MSLNL - 16 820596 A G 0 0 1 0 0 0 1
AutG8912CACNA1H - 16 1257375 A G 0 0 1 0 0 0 1 Positive
AutG8912CACNA1H - 16 1259233 C T 0 0 1 0 0 0 1
AutG8938BAIAP3 - 16 1393190 A G 0 0 1 0 0 0 1
AutG84572GNPTG - 16 1412838 C T 0 0 1 0 0 0 1 Positive
AutG64718UNKL - 16 1453364 C T 0 0 1 0 0 0 1
AutG1186CLCN7 - 16 1510886 G T 0 0 1 0 0 0 1
AutG23162MAPK8IP3 - 16 1756621 A G 0 0 1 0 0 0 1 Positive
AutG197342EME2 - 16 1825806 G A 0 0 1 0 0 0 1
AutG3029HAGH - 16 1866933 G A 0 0 1 0 0 0 1
AutG81889FAHD1 - 16 1877625 - - 0 0 1 0 0 0 1
AutG81889FAHD1 - 16 1877669 - - 0 0 1 0 0 0 1

Page Counts: 223/584  
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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