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
AutG5021OXTRrs35062132 3 8794707 G C 0 1 0 0 0 0 1
AutG135ADORA2Ars35320474 2 24837910 - - 0 1 0 0 0 0 1 Positive
AutG4489MT1Ars35346959 - - - - 0 1 0 0 0 0 1 Negative
AutG114791TUBGCP5rs35571762 1 22855425 C A 0 1 0 0 0 0 1 Negative
AutG5649RELNrs362726 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs362746 - - - - 0 1 0 0 0 0 1 Positive
AutG4855NOTCH4rs367398 6 32191730 G A 0 1 0 0 0 0 1 Negative
AutG7472WNT2rs3729629 - - - - 0 1 0 0 0 0 1 Positive
AutG27185DISC1rs3738401 - - - - 0 1 0 0 0 0 1 Negative
AutG27185DISC1rs3738402 - - - - 0 1 0 0 0 0 1 Negative
AutG57194ATP10Ars3743438 1 25933094 C A 0 1 0 0 0 0 1 Negative
AutG57502NLGN4Xrs3747333 X 5811532 G C 0 1 0 0 0 0 1 Positive
AutG57502NLGN4Xrs3747334 X 5811530 G A 0 1 0 0 0 0 1 Positive
AutG2571GAD1rs3749034 2 171673475 G C 0 1 0 0 0 0 1 Negative
AutG135ADORA2Ars3761422 2 24826672 T C 0 1 0 0 0 0 1 Positive
AutG50943FOXP3rs3761548 X 49118241 T A 0 1 0 0 0 0 1 Negative
AutG4520MTF1rs3762359 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs3763463 - - - - 0 1 0 0 0 0 1 Positive
AutG4698NDUFA5rs3779262 - - - - 0 1 0 0 0 0 1 Positive
AutG7472WNT2rs3779547 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 99/584  
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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