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
AutGLAT1rs4429303 - - - - 0 1 0 0 0 0 1 Positive
AutG6638SNRPNrs4474655 1 25073288 T C 0 1 0 0 0 0 1 Positive
AutG5649RELNrs4483088 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs449514 - - - - 0 1 0 0 0 0 1 Positive
AutG1584CYP11B1rs4541 8 143956693 G A 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs4565946 1 72336769 C C 0 1 0 0 0 0 1 Positive
AutG324APCrs459552 5 112176756 T A 0 1 0 0 0 0 1 Negative
AutG1813DRD2rs4630328 1 113334209 G A 0 1 0 0 0 0 1 Positive
AutG324APCrs465899 5 112177171 G C 0 1 0 0 0 0 1 Negative
AutG2571GAD1rs4668331 2 171706247 A A 0 1 0 0 0 0 1 Negative
AutG3398ID2rs4669330 2 8826750 A A 0 1 0 0 0 0 1 Negative
AutG1312COMTrs4680 2 19951271 G A 0 1 0 0 0 0 1 Positive
AutG7472WNT2rs4727847 - - - - 0 1 0 0 0 0 1 Positive
AutG2739GLO1rs4746 6 38650628 T A 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs4760816 1 72372601 C C 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs4760820 1 72396996 C C 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs4763351 1 13686475 C C 0 1 0 0 0 0 1
AutG2567GABRG3rs4778109 1 27724600 A A 0 1 0 0 0 0 1 Negative
AutG9915ARNT2rs4778599 1 80781763 G A 0 1 0 0 0 0 1 Positive
AutG321APBA2rs4779758 1 29383916 T C 0 1 0 0 0 0 1 Negative

Page Counts: 101/584  
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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