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
AutG65109UPF3B - X 118971853 CTTTT C 0 0 1 0 0 0 1
AutG643311CT47B1 - X 120009146 G T 0 0 1 0 0 0 1
AutG139170DCAF12L1 - X 125685718 C T 0 0 1 0 0 0 1
AutG7512XPNPEP2 - X 128894535 C T 0 0 1 0 0 0 1
AutG63035BCORL1 - X 129149138 G A 0 0 1 0 0 0 1 Positive
AutG3547IGSF1 - X 130478129 C T 0 0 1 0 0 0 1
AutG347468OR13H1 - X 130678860 G A 0 0 1 0 0 0 1
AutG8933FAM127A - X 134167161 G A 0 0 1 0 0 0 1
AutG55511SAGE1 - X 134988656 C T 0 0 1 0 0 0 1
AutG286410ATP11C - X 138864752 T A 0 0 1 0 0 0 1 Positive
AutG9947MAGEC1 - X 140994381 C G 0 0 1 0 0 0 1
AutG389898UBE2NL - X 144282934 G A 0 0 1 0 0 0 1
AutG4107MAGEA8 - X 149013698 C T 0 0 1 0 0 0 1
AutG139135PASD1 - X 150842415 G A 0 0 1 0 0 0 1
AutG79057PRRG3 - X 150868627 C T 0 0 1 0 0 0 1
AutG4102MAGEA3 - X 151935240 C A 0 0 1 0 0 0 1
AutG4102MAGEA3 - X 151935244 A G 0 0 1 0 0 0 1
AutG6535SLC6A8 - X 152959900 C T 0 0 1 0 0 0 1
AutG6748SSR4 - X 153062005 C T 0 0 1 0 0 0 1
AutG4204MECP2 - X 153296070 GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT G 0 0 1 0 0 0 1

Page Counts: 402/584  
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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