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
AutG147ADRA1Brs3020273 8 6309364 A A 2 0 0 0 0 0 2 Positive
AutG1814DRD3rs3773678 3 113870078 A C 2 0 0 0 0 0 2 Positive
AutG5218CDK14rs3802029 - - - - 2 0 0 0 0 0 2 Positive
AutG1133CHRM5rs4779656 1 34324603 A A 2 0 0 0 0 0 2 Positive
AutG2903GRIN2Ars4782041 1 10016904 C C 2 0 0 0 0 0 2 Positive
AutG1133CHRM5rs522397 1 34350913 A A 2 0 0 0 0 0 2 Positive
AutG389549FEZF1rs538558 - - - - 2 0 0 0 0 0 2 Positive
AutG4988OPRM1rs606148 - - - - 2 0 0 0 0 0 2 Positive
AutG4988OPRM1rs636433 - - - - 2 0 0 0 0 0 2 Positive
AutGZNF533rs7590028 2 180549443 G A 2 0 0 0 0 0 2 Positive
AutG5218CDK14rs802403 - - - - 2 0 0 0 0 0 2 Positive
AutG5218CDK14rs809131 - - - - 2 0 0 0 0 0 2 Positive
AutG3953LEPRrs8179183 - - - - 2 0 0 0 0 0 2 Positive
AutG4988OPRM1rs9322447 - - - - 2 0 0 0 0 0 2 Positive
AutG93986FOXP2rs936146 - - - - 2 0 0 0 0 0 2 Positive
AutG57680CHD8 - 14 21871178 G R 0 0 2 0 0 0 2
AutG2262GPC5 - 13 92560202 G A 0 0 2 0 0 0 2
AutG23077MYCBP2 - 13 77700568 A G 0 0 2 0 0 0 2
AutG675BRCA2 - 13 32929306 G A 0 0 2 0 0 0 2
AutG675BRCA2 - 13 32915264 G A 0 0 2 0 0 0 2

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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