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
AutG6638SNRPNrs2714751 1 25450777 G A 0 1 0 0 0 0 1 Positive
AutGOTrs2740204 2 3062467 G A 0 1 0 0 0 0 1 Negative
AutG4520MTF1rs28378413 - - - - 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs28431127 1 27250672 C C 0 1 0 0 0 0 1 Negative
AutG2898GRIK2rs2852564 6 102130209 G A 0 1 0 0 0 0 1 Positive
AutG683BST1rs28532698 4 15721619 T C 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs28564251 1 27579105 A A 0 1 0 0 0 0 1 Negative
AutG6638SNRPNrs28687287 1 25069306 T A 0 1 0 0 0 0 1 Positive
AutG27255CNTN6rs2872338 3 1162041 G A 0 1 0 0 0 0 1 Positive
AutG492ATP2B3rs2980017 X 152824792 G C 0 1 0 0 0 0 1 Negative
AutG6505SLC1A1rs301430 9 4576680 T C 0 1 0 0 0 0 1 Negative
AutG6505SLC1A1rs301979 9 4576851 G C 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs3212337 1 27011111 C A 0 1 0 0 0 0 1 Negative
AutGLAT1rs33914778 - - - - 0 1 0 0 0 0 1 Positive
AutGLAT1rs33923136 - - - - 0 1 0 0 0 0 1 Positive
AutGLAT1rs33942725 - - - - 0 1 0 0 0 0 1 Positive
AutGLAT1rs33971919 - - - - 0 1 0 0 0 0 1 Positive
AutGLAT1rs33988046 - - - - 0 1 0 0 0 0 1 Positive
AutG114791TUBGCP5rs34146883 1 22832977 A C 0 1 0 0 0 0 1 Negative
AutG5329PLAURrs344781 1 44174788 C C 0 1 0 0 0 0 1 Positive

Page Counts: 98/584  
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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