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
AutG23443SLC35A3 - 1 100480976 G A 0 0 1 0 0 0 1
AutG391059FRRS1 - 1 100214124 - - 0 0 1 0 0 0 1
AutG9890LPPR4 - 1 99887850 T G 0 0 1 0 0 0 1
AutG729987LOC729987 - 1 99026163 T A 0 0 1 0 0 0 1
AutG58155PTBP2 - 1 97272493 G A 0 0 1 0 0 0 1
AutG58155PTBP2 - 1 97189108 T TTA 0 0 1 0 0 0 1
AutG5825ABCD3 - 1 94953137 A G 0 0 1 0 0 0 1 Positive
AutG24ABCA4 - 1 94502713 A T 0 0 1 0 0 0 1
AutG8412BCAR3 - 1 94049574 C A 0 0 1 0 0 0 1
AutG54874FNBP1L - 1 94009717 A C 0 0 1 0 0 0 1 Positive
AutG22823MTF2 - 1 93602372 G A 0 0 1 0 0 0 1 Positive
AutG22823MTF2 - 1 93580638 C T 0 0 1 0 0 0 1
AutG11146GLMN - 1 92737032 T C 0 0 1 0 0 0 1
AutG11146GLMN - 1 92729282 C Y 0 0 1 0 0 0 1
AutG284697BTBD8 - 1 92546143 G A 0 0 1 0 0 0 1
AutG8317CDC7 - 1 91973842 G T 0 0 1 0 0 0 1
AutG84146ZNF644 - 1 91405302 C Y 0 0 1 0 0 0 1
AutG284695ZNF326 - 1 90767561 G A 0 0 1 0 0 0 1
AutG23507LRRC8B - 1 90049523 G R 0 0 1 0 0 0 1
AutG163351GBP6 - 1 89846032 G A 0 0 1 0 0 0 1

Page Counts: 195/584  
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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