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
AutG7486WRN - 8 31318573 G T 0 0 1 0 0 0 1
AutG137970UNC5D - 8 35616983 G A 0 0 1 0 0 0 1 Positive
AutG157855KCNU1 - 8 36793231 T C 0 0 1 0 0 0 1
AutG157855KCNU1 - 8 37232846 G A 0 0 1 0 0 0 1
AutG155ADRB3 - 8 37823742 G A 0 0 1 0 0 0 1
AutG155ADRB3 - 8 37838772 T C 0 0 1 0 0 0 1
AutG9070ASH2L - 8 37986409 T C 0 0 1 0 0 0 1
AutG9070ASH2L - 8 37993231 G C 0 0 1 0 0 0 1
AutG6867TACC1 - 8 38645085 C G 0 0 1 0 0 0 1
AutG59339PLEKHA2 - 8 38829626 A C 0 0 1 0 0 0 1
AutG8754ADAM9 - 8 38884348 C T 0 0 1 0 0 0 1
AutG8754ADAM9 - 8 38884349 T C 0 0 1 0 0 0 1
AutG2515ADAM2 - 8 39645715 T C 0 0 1 0 0 0 1
AutG286ANK1 - 8 41550730 G A 0 0 1 0 0 0 1
AutG286ANK1 - 8 41641520 T C 0 0 1 0 0 0 1
AutG5327PLAT - 8 42042618 G C 0 0 1 0 0 0 1
AutG6575SLC20A2 - 8 42287662 T C 0 0 1 0 0 0 1
AutG340441POTEA - 8 43157164 T C 0 0 1 0 0 0 1
AutG5591PRKDC - 8 48849076 G A 0 0 1 0 0 0 1
AutG4173MCM4 - 8 48874628 T C 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