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
AutG140733MACROD2 - 20 15567973 C T 0 0 1 0 0 0 1
AutG5126PCSK2 - 20 17462427 C T 0 0 1 0 0 0 1
AutG6238RRBP1 - 20 17602158 G A 0 0 1 0 0 0 1
AutG27131SNX5 - 20 17923824 - - 0 0 1 0 0 0 1 Positive
AutG27131SNX5 - 20 17928186 G A 0 0 1 0 0 0 1
AutG57419SLC24A3 - 20 19664943 C G 0 0 1 0 0 0 1 Positive
AutG57419SLC24A3 - 20 19701743 G A 0 0 1 0 0 0 1 Positive
AutGAPMAP - 20 24964537 A G 0 0 1 0 0 0 1
AutG84532ACSS1 - 20 24993472 C A 0 0 1 0 0 0 1
AutG955ENTPD6 - 20 25194012 G T 0 0 1 0 0 0 1
AutG22981NINL - 20 25459809 T A 0 0 1 0 0 0 1
AutG22974TPX2 - 20 30366759 T C 0 0 1 0 0 0 1
AutG2307FOXS1 - 20 30432906 G A 0 0 1 0 0 0 1 Positive
AutG128853DUSP15 - 20 30457849 A G 0 0 1 0 0 0 1
AutGCCM2L - 20 30602724 C T 0 0 1 0 0 0 1
AutG3055HCK - 20 30689268 T C 0 0 1 0 0 0 1
AutG9777TM9SF4 - 20 30732948 C T 0 0 1 0 0 0 1
AutG171023ASXL1 - 20 30959942 A T 0 0 1 0 0 0 1
AutG171023ASXL1 - 20 31021466 C T 0 0 1 0 0 0 1
AutG- - 20 31473369 G R 0 0 1 0 0 0 1

Page Counts: 293/584  
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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