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
AutG9076CLDN1 - 3 190030680 A C 0 0 0 1 0 0 1
AutG440993LINC00969 - 3 195426077 T A 0 0 0 1 0 0 1
AutG200958MUC20 - 3 195456546 G C 0 0 0 1 0 0 1 Positive
AutG4585MUC4 - 3 195509511 G A 0 0 0 1 0 0 1
AutG4585MUC4 - 3 195510750 G A 0 0 0 1 0 0 1
AutG4585MUC4 - 3 195511844 T G 0 0 0 1 0 0 1
AutG4585MUC4 - 3 195512399 G T 0 0 0 1 0 0 1
AutG4585MUC4 - 3 195512542 G A 0 0 0 1 0 0 1
AutG1739DLG1 - 3 197023283 G A 0 0 0 1 0 0 1
AutG84859LRCH3 - 3 197562676 C T 0 0 0 1 0 0 1 Positive
- 3 197748355 G A 0 0 0 1 0 0 1
AutG152687ZNF595 - 4 59964 T C 0 0 0 1 0 0 1
AutG54872PIGG - 4 499570 C T 0 0 0 1 0 0 1
AutG5158PDE6B - 4 652788 C T 0 0 0 1 0 0 1
AutG8603FAM193A - 4 2661708 G A 0 0 0 1 0 0 1
AutG6452SH3BP2 - 4 2814174 G A 0 0 0 1 0 0 1
AutG683BST1 - 4 15707209 C A 0 0 0 1 0 0 1 Positive
AutG27146FAM184B - 4 17706804 G A 0 0 0 1 0 0 1
AutG57495NWD2 - 4 37446620 C A 0 0 0 1 0 0 1
AutG81793TLR10 - 4 38775885 T C 0 0 0 1 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