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
AutG4916NTRK3rs7176520 1 88778600 C C 0 1 0 0 0 0 1 Positive
AutG4489MT1Ars7190725 - - - - 0 1 0 0 0 0 1 Negative
AutG10458BAIAP2rs7210438 1 79060180 C C 0 1 0 0 0 0 1 Positive
AutG84282RNF135rs7211440 1 29298413 T C 0 1 0 0 0 0 1 Negative
AutG84282RNF135rs7224960 1 29298451 G G 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs722519 - - - - 0 1 0 0 0 0 1 Positive
AutGJMJD2Crs722628 9 7146888 G A 0 1 0 0 0 0 1 Positive
AutG3211HOXB1rs72338773 - - - - 0 1 0 0 0 0 1 Negative
AutG4489MT1Ars72537170 - - - - 0 1 0 0 0 0 1 Negative
AutG2904GRIN2Brs7301500 1 13941779 T C 0 1 0 0 0 0 1
AutG197257LDHDrs730168 1 75150275 C A 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs7305115 1 72372862 A A 0 1 0 0 0 0 1 Positive
AutG7472WNT2rs733153 - - - - 0 1 0 0 0 0 1 Positive
AutG100ADArs73598374 2 43280227 C A 0 1 0 0 0 0 1 Negative
AutG6638SNRPNrs736008 1 25092266 T C 0 1 0 0 0 0 1 Positive
AutG23426GRIP1rs7397862 1 66814487 C A 0 1 0 0 0 0 1 Positive
AutGLAT1rs74039959 1 87864483 G A 0 1 0 0 0 0 1 Positive
AutG5803PTPRZ1rs740960 - - - - 0 1 0 0 0 0 1 Negative
AutG6638SNRPNrs7496951 1 25671303 C C 0 1 0 0 0 0 1 Positive
AutG10458BAIAP2rs7503597 1 79049273 T A 0 1 0 0 0 0 1 Positive

Page Counts: 106/584  
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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