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
AutG4233METrs38846 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs38850 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs38852 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs38854 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs38855 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs38857 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs38859 - - - - 0 1 0 0 0 0 1 Positive
AutG3690ITGB3rs3892085 1 45340480 A A 0 1 0 0 0 0 1 Negative
AutG9915ARNT2rs3901896 1 80734097 C C 0 1 0 0 0 0 1 Negative
AutG3685ITGAVrs3911239 2 187470311 C A 0 1 0 0 0 0 1 Negative
AutG1610DAOrs3918346 1 109281884 G C 0 1 0 0 0 0 1 Negative
AutG1610DAOrs3918347 1 109293320 A A 0 1 0 0 0 0 1 Negative
AutG64221ROBO3rs3923890 1 124740410 A A 0 1 0 0 0 0 1 Positive
AutG3084NRG1rs3924999 8 32453358 G C 0 1 0 0 0 0 1
AutG7472WNT2rs39315 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs39360 - - - - 0 1 0 0 0 0 1 Positive
AutG5329PLAURrs397374 1 44163781 A A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs398671 1 24155402 A A 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs402029 - - - - 0 1 0 0 0 0 1 Positive
AutG2569GABRR1rs404943 6 89891582 T C 0 1 0 0 0 0 1 Negative

Page Counts: 52/584  
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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