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
AutG2904GRIN2Brs888150 1 13745044 T A 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs890317 1 26922201 A A 0 1 0 0 0 0 1 Negative
AutG4489MT1Ars904776 - - - - 0 1 0 0 0 0 1 Negative
AutG4489MT1Ars904777 - - - - 0 1 0 0 0 0 1 Negative
AutG152330CNTN4rs908487 3 2768542 T A 0 1 0 0 0 0 1 Positive
AutG6134RPL10rs915941 X 153626649 A A 0 1 0 0 0 0 1 Negative
AutG6134RPL10rs915942 X 153626738 G A 0 1 0 0 0 0 1 Negative
AutG2904GRIN2Brs918065 1 13842709 C A 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs918316 3 8798181 T C 0 1 0 0 0 0 1 Positive
AutG4916NTRK3rs920069 1 88482810 G A 0 1 0 0 0 0 1 Positive
AutG9369NRXN3rs929921 - - - - 0 1 0 0 0 0 1 Negative
AutG90665TBL1Yrs9306845 Y 6941218 A A 0 1 0 0 0 0 1 Negative
AutG1312COMTrs933271 2 19931407 T C 0 1 0 0 0 0 1 Positive
AutG6263RYR3rs937303 1 33940768 G C 0 1 0 0 0 0 1 Negative
AutG5191PEX7rs9402850 - - - - 0 1 0 0 0 0 1 Positive
AutG5191PEX7rs9494587 - - - - 0 1 0 0 0 0 1 Positive
AutG63974NEUROD6rs9655313 - - - - 0 1 0 0 0 0 1 Negative
AutG4520MTF1rs9660548 - - - - 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs966664 1 13709208 A C 0 1 0 0 0 0 1
AutG22829NLGN4Yrs9786893 Y 16846439 C A 0 1 0 0 0 0 1 Positive

Page Counts: 109/584  
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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