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
AutGCHDC2 - X 36116898 TTTTAA T 0 0 1 0 0 0 1
AutG7102TSPAN7 - X 38420765 T TGCC 0 0 1 0 0 0 1
AutG8239USP9X - X 41025124 - - 0 0 1 0 0 0 1
AutG8239USP9X - X 41025217 A T 0 0 1 0 0 0 1 Positive
AutG1654DDX3X - X 41202564 AT A 0 0 1 0 0 0 1
AutG1654DDX3X - X 41203604 G A 0 0 1 0 0 0 1 Positive
AutG8573CASK - X 41519760 G A 0 0 1 0 0 0 1
AutG8573CASK - X 41524649 C T 0 0 1 0 0 0 1 Positive
AutG7403KDM6A - X 44896898 G A 0 0 1 0 0 0 1
AutG7403KDM6A - X 44938511 C CT 0 0 1 0 0 0 1
AutG7403KDM6A - X 44938511 CT CTT 0 0 1 0 0 0 1
AutG8237USP11 - X 47100661 C T 0 0 1 0 0 0 1
AutG2002ELK1 - X 47497356 C T 0 0 1 0 0 0 1
AutG6839SUV39H1 - X 48555155 T A 0 0 1 0 0 0 1
AutG11152WDR45 - X 48935752 C G 0 0 1 0 0 0 1
AutG4007PRICKLE3 - X 49032285 G A 0 0 1 0 0 0 1
AutG4007PRICKLE3 - X 49034380 C T 0 0 1 0 0 0 1
AutG28952CCDC22 - X 49105278 A C 0 0 1 0 0 0 1
AutG85417CCNB3 - X 50085212 G T 0 0 1 0 0 0 1 Positive
AutG57477SHROOM4 - X 50348560 C T 0 0 1 0 0 0 1

Page Counts: 399/584  
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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