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
AutG3918LAMC2 - 1 183184672 C T 0 0 1 0 0 0 1
AutG3915LAMC1 - 1 183086530 T C 0 0 1 0 0 0 1 Positive
AutG1660DHX9 - 1 182822497 C T 0 0 1 0 0 0 1
AutG127665ZNF648 - 1 182026889 C T 0 0 1 0 0 0 1
AutG777CACNA1E - 1 181767871 G A 0 0 1 0 0 0 1
AutG777CACNA1E - 1 181708295 G R 0 0 1 0 0 0 1
AutG777CACNA1E - 1 181686288 C T 0 0 1 0 0 0 1 Positive
AutG3140MR1 - 1 181021601 C T 0 0 1 0 0 0 1
AutG9857CEP350 - 1 179985050 A G 0 0 1 0 0 0 1 Positive
AutG9857CEP350 - 1 179983048 A M 0 0 1 0 0 0 1
AutG126859C1orf125 - 1 179337957 A G 0 0 1 0 0 0 1
AutG6646SOAT1 - 1 179311252 C A 0 0 1 0 0 0 1 Positive
AutG6646SOAT1 - 1 179310419 T G 0 0 1 0 0 0 1 Positive
AutG9917FAM20B - 1 179013336 G A 0 0 1 0 0 0 1
AutG400798C1orf220 - 1 178548602 G T 0 0 1 0 0 0 1
AutG64326RFWD2 - 1 176220677 C G 0 0 1 0 0 0 1
AutG64326RFWD2 - 1 175958552 T C 0 0 1 0 0 0 1 Positive
AutG149041RC3H1 - 1 173947674 G A 0 0 1 0 0 0 1
AutG149041RC3H1 - 1 173947626 C T 0 0 1 0 0 0 1 Positive
AutG284525SLC9A11 - 1 173493166 A G 0 0 1 0 0 0 1

Page Counts: 187/584  
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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