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
AutG6638SNRPNrs11161149 1 25120704 A A 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs11161335 1 27004095 T A 0 1 0 0 0 0 1 Negative
AutG4489MT1Ars111640851 - - - - 0 1 0 0 0 0 1 Negative
AutGDMT1rs1116965 9 74900731 G C 0 1 0 0 0 0 1 Positive
AutGDMT1rs11169655 1 51386331 T A 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs11178998 1 72332715 A A 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs11178999 1 72333570 G A 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs11179000 1 72338628 A A 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs11179003 1 72343287 C C 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs11179027 1 72377312 G C 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs11179043 1 72404839 G C 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs11179059 1 72415206 T C 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs11179064 1 72420051 G A 0 1 0 0 0 0 1 Positive
AutG84282RNF135rs111902263 1 29298435 G A 0 1 0 0 0 0 1 Positive
AutG4520MTF1rs112836202 - - - - 0 1 0 0 0 0 1 Positive
AutG4520MTF1rs112943950 - - - - 0 1 0 0 0 0 1 Positive
AutG4128MAOArs1137070 X 43603391 T C 0 1 0 0 0 0 1
AutGLAT1rs114164039 - - - - 0 1 0 0 0 0 1 Positive
AutG5803PTPRZ1rs1147489 - - - - 0 1 0 0 0 0 1 Negative
AutG2100ESR2rs1152582 1 64692630 G C 0 1 0 0 0 0 1 Positive

Page Counts: 84/584  
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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