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
AutG2904GRIN2Brs7961819 1 13698642 C C 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs7963717 1 72331362 A A 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs7963720 1 72366186 C C 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs7970177 1 13738988 T C 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs7974275 1 13950577 T G 0 1 0 0 0 0 1
AutG121278TPH2rs7978692 1 72366118 T C 0 1 0 0 0 0 1 Positive
AutG57194ATP10Ars8039801 1 26037411 T C 0 1 0 0 0 0 1 Negative
AutG57194ATP10Ars8041681 1 25929207 A A 0 1 0 0 0 0 1 Negative
AutG4489MT1Ars8049883 - - - - 0 1 0 0 0 0 1 Negative
AutGLAT1rs8055157 - - - - 0 1 0 0 0 0 1 Positive
AutG10458BAIAP2rs8067235 1 79024637 G A 0 1 0 0 0 0 1 Positive
AutG10458BAIAP2rs8079626 1 79026872 A A 0 1 0 0 0 0 1 Positive
AutG10458BAIAP2rs8079781 1 79050148 C C 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs8179184 1 27019602 C A 0 1 0 0 0 0 1 Negative
AutG27185DISC1rs821616 - - - - 0 1 0 0 0 0 1 Negative
AutGDMT1rs829022 1 51374748 G A 0 1 0 0 0 0 1 Positive
AutG5444PON1rs854560 - - - - 0 1 0 0 0 0 1 Negative
AutGDAPPER1rs863091 1 59112475 C C 0 1 0 0 0 0 1 Positive
AutG57194ATP10Ars882406 1 26046739 G C 0 1 0 0 0 0 1 Negative
AutG7472WNT2rs887575 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 108/584  
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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