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
AutG9924PAN2 - 12 56721172 G A 0 0 1 0 0 0 1 Positive
AutG1431CS - 12 56667052 G T 0 0 1 0 0 0 1
AutG6601SMARCC2 - 12 56567574 G A 0 0 1 0 0 0 1
AutG23344ESYT1 - 12 56522182 C T 0 0 1 0 0 0 1
AutG254786OR6C3 - 12 55726227 C T 0 0 1 0 0 0 1
AutG5153PDE1B - 12 54966430 G A 0 0 1 0 0 0 1 Positive
AutG22818COPZ1 - 12 54739230 C G 0 0 1 0 0 0 1
AutG22818COPZ1 - 12 54735998 C T 0 0 1 0 0 0 1
AutG121340SP7 - 12 53722742 G R 0 0 1 0 0 0 1
- 12 53708082 C T 0 0 1 0 0 0 1
AutG3695ITGB7 - 12 53586569 G A 0 0 1 0 0 0 1
AutG23371TENC1 - 12 53454931 G A 0 0 1 0 0 0 1
AutG1975EIF4B - 12 53416262 T C 0 0 1 0 0 0 1
AutG3875KRT18 - 12 53343125 C T 0 0 1 0 0 0 1
AutG112802KRT71 - 12 52942001 G A 0 0 1 0 0 0 1 Positive
AutG112802KRT71 - 12 52941786 G C 0 0 1 0 0 0 1
AutG9119KRT75 - 12 52825828 G A 0 0 1 0 0 0 1 Positive
AutG3888KRT82 - 12 52799948 G A 0 0 1 0 0 0 1
AutG3891KRT85 - 12 52756034 C T 0 0 1 0 0 0 1
AutG3891KRT85 - 12 52754716 G A 0 0 1 0 0 0 1

Page Counts: 148/584  
148 First  Previous  147  148  149  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