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
AutGLAT1rs1060266 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs1062831 - - - - 0 1 0 0 0 0 1 Positive
AutGLAT1rs10692037 - - - - 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs10772722 1 14161665 G G 0 1 0 0 0 0 1
AutG2904GRIN2Brs10845801 1 13691340 G A 0 1 0 0 0 0 1
AutG2904GRIN2Brs10845827 1 13859064 A A 0 1 0 0 0 0 1
AutG2904GRIN2Brs10845852 1 14027137 C A 0 1 0 0 0 0 1
AutG2904GRIN2Brs10845853 1 14035011 A A 0 1 0 0 0 0 1
AutG2904GRIN2Brs10845868 1 14154639 A A 0 1 0 0 0 0 1
AutG8543LMO4rs10873830 1 87803200 C C 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs10879348 1 72366639 G A 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs10889038 1 57826766 T C 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs11055608 1 13913426 T G 0 1 0 0 0 0 1
AutG2904GRIN2Brs11055625 1 13952894 A A 0 1 0 0 0 0 1 Positive
AutG6263RYR3rs11072673 1 34096208 T G 0 1 0 0 0 0 1 Negative
AutG4489MT1Ars11076160 - - - - 0 1 0 0 0 0 1 Negative
AutG4489MT1Ars11076161 - - - - 0 1 0 0 0 0 1 Negative
AutG5021OXTRrs11131149 3 8802851 G A 0 1 0 0 0 0 1 Positive
AutG2099ESR1rs11155819 - - - - 0 1 0 0 0 0 1 Positive
AutG6638SNRPNrs11161139 1 25063510 T C 0 1 0 0 0 0 1 Positive

Page Counts: 83/584  
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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