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
AutG727897MUC5B - 11 1255489 CT C 0 0 1 0 0 0 1
AutG4583MUC2 - 11 1104266 G A 0 0 1 0 0 0 1
AutG4583MUC2 - 11 1104228 G A 0 0 1 0 0 0 1
AutG4583MUC2 - 11 1101090 G A 0 0 1 0 0 0 1
AutG4583MUC2 - 11 1094679 G A 0 0 1 0 0 0 1
AutG4583MUC2 - 11 1093562 C G 0 0 1 0 0 0 1
AutG4583MUC2 - 11 1090971 C T 0 0 1 0 0 0 1
AutG4583MUC2 - 11 1075819 C T 0 0 1 0 0 0 1
AutG4588MUC6 - 11 1018420 T G 0 0 1 0 0 0 1
AutG4588MUC6 - 11 1016042 C G 0 0 1 0 0 0 1
AutG977CD151 - 11 837476 G C 0 0 1 0 0 0 1 Positive
AutG6888TALDO1 - 11 760129 T C 0 0 1 0 0 0 1 Positive
AutG6888TALDO1 - 11 758966 A G 0 0 1 0 0 0 1
AutG10522DEAF1 - 11 688377 G A 0 0 1 0 0 0 1
AutG10522DEAF1 - 11 687919 A G 0 0 1 0 0 0 1 Positive
AutG10522DEAF1 - 11 687917 C T 0 0 1 0 0 0 1 Positive
AutG53841CDHR5 - 11 618678 T K 0 0 1 0 0 0 1
AutG57661PHRF1 - 11 610966 C G 0 0 1 0 0 0 1
AutG57661PHRF1 - 11 609438 G A 0 0 1 0 0 0 1
AutG11187PKP3 - 11 396860 C T 0 0 1 0 0 0 1

Page Counts: 170/584  
170 First  Previous  169  170  171  Next  Last

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