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
AutG1812DRD1rs686 - - - - 0 1 0 0 0 0 1 Positive
AutG9555H2AFYrs6865399 - - - - 0 1 0 0 0 0 1 Positive
AutG10923SUB1rs6876035 5 32581603 C C 0 1 0 0 0 0 1 Negative
AutG2554GABRA1rs6878494 - - - - 0 1 0 0 0 0 1 Negative
AutG2559GABRA6rs6883829 - - - - 0 1 0 0 0 0 1 Negative
AutG5743PTGS2rs689466 - - - - 0 1 0 0 0 0 1 Positive
AutG9481SLC25A27rs6901132 6 46631801 A A 0 1 0 0 0 0 1 Positive
AutG9481SLC25A27rs6901178 6 46631886 A A 0 1 0 0 0 0 1 Positive
AutG2569GABRR1rs6902106 6 89925740 A A 0 1 0 0 0 0 1 Negative
AutG2534FYNrs6919306 6 112119619 C C 0 1 0 0 0 0 1 Positive
AutG2911GRM1rs6923492 - - - - 0 1 0 0 0 0 1
AutG2739GLO1rs6932648 6 38658883 C C 0 1 0 0 0 0 1 Negative
AutG5649RELNrs6951651 - - - - 0 1 0 0 0 0 1 Negative
AutG5649RELNrs6960198 - - - - 0 1 0 0 0 0 1 Positive
AutG10203CALCRLrs696092 2 188210214 G C 0 1 0 0 0 0 1 Negative
AutG346547FLJ42291rs6965505 - - - - 0 1 0 0 0 0 1 Negative
AutG10203CALCRLrs698574 2 188262330 A A 0 1 0 0 0 0 1 Negative
AutG3084NRG1rs6994992 8 31495581 C C 0 1 0 0 0 0 1 Positive
AutG267012DAOArs701567 1 106141995 T A 0 1 0 0 0 0 1 Negative
AutG4010LMX1Brs7030919 9 129438872 A A 0 1 0 0 0 0 1 Positive

Page Counts: 66/584  
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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