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
AutG1977EIF4Ers4699369 4 99809422 G A 0 1 0 0 0 0 1
AutG7472WNT2rs4727847 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs4729931 - - - - 0 1 0 0 0 0 1 Negative
-rs4730365 - - - - 0 1 0 0 0 0 1 Negative
rs4731699 - - - - 0 1 0 0 0 0 1
AutG3082HGFrs4732404 - - - - 0 1 0 0 0 0 1 Negative
AutG7534YWHAZrs4734500 8 101970119 C C 0 1 0 0 0 0 1 Positive
AutG7436VLDLRrs4740698 9 2637551 G G 0 1 0 0 0 0 1 Negative
AutG5307PITX1rs474853 - - - - 0 1 0 0 0 0 1 Positive
AutG8065CUL5rs4754287 1 107891053 G A 0 1 0 0 0 0 1 Negative
AutG5329PLAURrs4760 1 44153100 A C 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs476466 1 57663923 A A 0 1 0 0 0 0 1 Positive
AutG775CACNA1Crs4765905 1 2349584 G C 0 1 0 0 0 0 1 Positive
-rs4780799 1 19391875 A A 0 1 0 0 0 0 1 Negative
AutG124152IQCKrs4782286 1 19834422 G A 0 1 0 0 0 0 1 Negative
AutG123879DCUN1D3rs4783372 1 20880422 C C 0 1 0 0 0 0 1 Negative
AutG55567DNAH3rs4783381 1 21154467 A A 0 1 0 0 0 0 1 Negative
AutG146183OTOArs4783413 1 21735579 G C 0 1 0 0 0 0 1 Negative
AutG146183OTOArs4783414 1 21737414 T C 0 1 0 0 0 0 1 Negative
-rs4783485 1 20739924 C C 0 1 0 0 0 0 1 Negative

Page Counts: 57/584  
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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