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
AutG3763KCNJ6 - 21 39087336 T C 0 0 1 0 0 0 1
AutG1859DYRK1A - 21 39923246 - - 0 0 1 0 0 0 1
AutG1859DYRK1A - 21 39943596 G - 0 0 1 0 0 0 1
AutG1859DYRK1A - 21 39955963 - - 0 0 1 0 0 0 1
AutG54014BRWD1 - 21 40568453 * 1D, -T 0 0 1 0 0 0 1
AutG150084IGSF5 - 21 41137773 G A 0 0 1 0 0 0 1
AutG1826DSCAM - 21 41414330 A AT 0 0 1 0 0 0 1
AutG1826DSCAM - 21 41414453 G A/G 0 0 1 0 0 0 1 Positive
AutG1826DSCAM - 21 41446967 G G/A 0 0 1 0 0 0 1
AutG1826DSCAM - 21 41457527 A T 0 0 1 0 0 0 1
AutG1826DSCAM - 21 41457640 T TTA 0 0 1 0 0 0 1
AutG1826DSCAM - 21 41648022 A C 0 0 1 0 0 0 1
AutG1826DSCAM - 21 41719739 AG A 0 0 1 0 0 0 1
AutG1826DSCAM - 21 42016189 - - 0 0 1 0 0 0 1
AutG7113TMPRSS2 - 21 42842590 C Y 0 0 1 0 0 0 1
AutGZBTB21 - 21 43412590 C T 0 0 1 0 0 0 1 Positive
AutG89766UMODL1 - 21 43547300 AC A 0 0 1 0 0 0 1
AutG89766UMODL1 - 21 43611227 C T 0 0 1 0 0 0 1
AutG53347UBASH3A - 21 43833609 T G 0 0 1 0 0 0 1
AutG5152PDE9A - 21 44144183 G T 0 0 1 0 0 0 1

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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