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
AutG348738C2orf48 - 2 10350638 A C 0 0 1 0 0 0 1
AutG79954NOL10 - 2 10747348 A C 0 0 1 0 0 0 1
AutG10130PDIA6 - 2 10931993 T Y 0 0 1 0 0 0 1
AutG9687GREB1 - 2 11765413 G A 0 0 1 0 0 0 1
AutG23620NTSR2 - 2 11798722 G A 0 0 1 0 0 0 1
AutG51594BAS - 2 15417138 G A 0 0 1 0 0 0 1
AutG51594BAS - 2 15417139 T A 0 0 1 0 0 0 1 Positive
AutG79677SMC6 - 2 17877683 T G 0 0 1 0 0 0 1 Positive
AutG57539WDR35 - 2 20138107 C G 0 0 1 0 0 0 1 Positive
AutG50618ITSN2 - 2 24469704 C T 0 0 1 0 0 0 1 Positive
AutG50618ITSN2 - 2 24518595 C T 0 0 1 0 0 0 1
AutG109ADCY3 - 2 25042880 A G 0 0 1 0 0 0 1 Positive
AutG109ADCY3 - 2 25057739 C T 0 0 1 0 0 0 1
AutG109ADCY3 - 2 25061366 G A 0 0 1 0 0 0 1
AutG51277DNAJC27 - 2 25180710 T G 0 0 1 0 0 0 1 Positive
AutG22979EFR3B - 2 25354705 G T 0 0 1 0 0 0 1
AutG22979EFR3B - 2 25360307 CAGCATCGAGC CAGC 0 0 1 0 0 0 1
AutG1788DNMT3A - 2 25457176 G A 0 0 1 0 0 0 1 Positive
AutG1788DNMT3A - 2 25463289 T C 0 0 1 0 0 0 1 Positive
AutG1788DNMT3A - 2 25464520 C A 0 0 1 0 0 0 1 Positive

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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