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
AutG64232MS4A5 - 11 60213221 G C 0 0 1 0 0 0 1
AutG64231MS4A6A - 11 59949115 G T 0 0 1 0 0 0 1
AutG219972MPEG1 - 11 58979679 G A 0 0 1 0 0 0 1
AutG219968OR5B21 - 11 58275286 T C 0 0 1 0 0 0 1 Positive
AutG219952OR6Q1 - 11 57798755 C T 0 0 1 0 0 0 1
AutG10978CLP1 - 11 57428454 G T 0 0 1 0 0 0 1 Positive
AutG219473OR8K3 - 11 56086068 T C 0 0 1 0 0 0 1
AutG338674OR5F1 - 11 55761926 A G 0 0 1 0 0 0 1 Positive
AutG390148OR5W2 - 11 55693993 A T 0 0 1 0 0 0 1
AutG390148OR5W2 - 11 55681687 C T 0 0 1 0 0 0 1
AutG81309OR4C15 - 11 55322787 C A 0 0 1 0 0 0 1
AutG81328OR4A15 - 11 55239513 C T 0 0 1 0 0 0 1
AutGNONE - 11 54818501 A G 0 0 1 0 0 0 1
AutGNONE - 11 54818468 A G 0 0 1 0 0 0 1
AutG119749OR4C46 - 11 51515545 G C 0 0 1 0 0 0 1
AutG81318OR4A5 - 11 51487490 C T 0 0 1 0 0 0 1
AutG5795PTPRJ - 11 48185164 A G 0 0 1 0 0 0 1 Positive
AutG23360FBP4 - 11 47788778 AC A 0 0 1 0 0 0 1
AutG55709KBTBD4 - 11 47597183 T C 0 0 1 0 0 0 1 Positive
AutG55709KBTBD4 - 11 47595152 C T 0 0 1 0 0 0 1 Positive

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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