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
AutG4128MAOArs5905809 X 43547230 G C 0 1 0 0 0 0 1
AutG4128MAOArs5906883 X 43526943 A A 0 1 0 0 0 0 1
AutG57502NLGN4Xrs5916338 X 6135529 A A 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5925756 X 23364418 G A 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5925762 X 23395608 G G 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5925763 X 23397411 C C 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5926298 X 23384395 C C 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5926300 X 23388225 T C 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5926304 X 23398214 T C 0 1 0 0 0 0 1 Positive
AutG3358HTR2Crs5946005 X 114082535 G A 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5970715 X 23405142 C C 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5971108 X 23382666 G C 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5971110 X 23388631 G A 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5971111 X 23392196 T C 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5971113 X 23403850 G A 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs5971114 X 23405368 A A 0 1 0 0 0 0 1 Negative
AutG4684NCAM1rs605843 1 113125234 T A 0 1 0 0 0 0 1
AutG5649RELNrs607755 - - - - 0 1 0 0 0 0 1 Positive
AutG84282RNF135rs61749868 1 29326155 G A 0 1 0 0 0 0 1 Negative
AutG4520MTF1rs61778086 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 103/584  
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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