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
AutG9600PITPNM1 - 11 67265421 G A 0 0 1 0 0 0 1
AutG57175CORO1B - 11 67208799 C T 0 0 1 0 0 0 1
AutG6199RPS6KB2 - 11 67198951 G A 0 0 1 0 0 0 1
AutG338692ANKRD13D - 11 67056954 T C 0 0 1 0 0 0 1
AutG156ADRBK1 - 11 67051346 C T 0 0 1 0 0 0 1 Positive
AutG156ADRBK1 - 11 67046915 G A 0 0 1 0 0 0 1
AutG22992KDM2A - 11 67007740 C CT 0 0 1 0 0 0 1
AutG9986RCE1 - 11 66611241 C T 0 0 1 0 0 0 1
AutG79703C11orf80 - 11 66515885 CAT C 0 0 1 0 0 0 1
AutG6712SPTBN2 - 11 66453370 C T 0 0 1 0 0 0 1 Positive
AutG10432RBM14 - 11 66392971 G A 0 0 1 0 0 0 1 Positive
AutG10432RBM14 - 11 66391961 C G 0 0 1 0 0 0 1
AutG55231CCDC87 - 11 66358680 T G 0 0 1 0 0 0 1
AutG55231CCDC87 - 11 66358293 C A 0 0 1 0 0 0 1
AutG10072DPP3 - 11 66254814 G A 0 0 1 0 0 0 1
AutG254263CNIH2 - 11 66050162 C T 0 0 1 0 0 0 1
AutG64837KLC2 - 11 66031216 G C 0 0 1 0 0 0 1
AutG10992SF3B2 - 11 65826778 A G 0 0 1 0 0 0 1 Positive
AutG10992SF3B2 - 11 65824803 G C 0 0 1 0 0 0 1 Positive
AutG10992SF3B2 - 11 65822676 C T 0 0 1 0 0 0 1 Positive

Page Counts: 161/584  
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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