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
AutG95681TSGA14rs6467308 - - - - 0 1 0 0 0 0 1 Positive
AutG57670KIAA1549rs6467813 - - - - 0 1 0 0 0 0 1 Negative
AutG3082HGFrs6467866 - - - - 0 1 0 0 0 0 1 Negative
AutG3082HGFrs6467869 - - - - 0 1 0 0 0 0 1 Negative
AutG4010LMX1Brs6478750 9 129409198 T C 0 1 0 0 0 0 1 Positive
AutG79838TMC5rs6497373 1 19460842 A A 0 1 0 0 0 0 1 Negative
AutG57020C16orf62rs6497384 1 19593817 C C 0 1 0 0 0 0 1 Negative
AutG124152IQCKrs6497402 1 19769394 A A 0 1 0 0 0 0 1 Negative
AutG29904EEF2Krs6497580 1 22232426 G A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs6497692 1 23879382 C C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs6497696 1 23901896 C C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs6497698 1 23913034 T C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs6497699 1 23917335 G A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs6497703 1 23921464 G A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs6497704 1 23924567 A A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs6497712 1 24019708 G A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs6497722 1 24118838 C C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs6497725 1 24125749 G G 0 1 0 0 0 0 1 Positive
AutG1394CRHR1rs6503448 1 43842473 G A 0 1 0 0 0 0 1 Positive
AutG1950EGFrs6533485 4 110927563 G C 0 1 0 0 0 0 1 Negative

Page Counts: 63/584  
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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