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
AutG2058EPRSrs1694576 - - - - 0 1 0 0 0 0 1 Negative
AutG3675ITGA3rs16948648 1 48155771 C C 0 1 0 0 0 0 1 Negative
AutG2950GSTP1rs1695 1 67352689 A A 0 1 0 0 0 0 1 Negative
AutG9956HS3ST2rs169660 1 22840704 G C 0 1 0 0 0 0 1 Negative
AutG5307PITX1rs1700488 - - - - 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs17007885 - - - - 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs17007981 - - - - 0 1 0 0 0 0 1 Positive
AutG2534FYNrs17073012 6 112179638 T G 0 1 0 0 0 0 1 Positive
AutG1857DVL3rs1709642 3 183881775 A C 0 1 0 0 0 0 1 Negative
AutG1600DAB1rs17116847 1 58546328 G A 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs17117101 1 58671217 G G 0 1 0 0 0 0 1 Positive
AutG9732KIAA0716rs17158796 - - - - 0 1 0 0 0 0 1 Negative
AutG26047CNTNAP2rs17170073 - - - - 0 1 0 0 0 0 1
AutG51422PRKAG2rs17173197 - - - - 0 1 0 0 0 0 1 Negative
AutG26047CNTNAP2rs17236239 - - - - 0 1 0 0 0 0 1
AutG7166TPH1rs172423 1 18056225 T A 0 1 0 0 0 0 1 Positive
AutG7534YWHAZrs17365661 8 101943404 A A 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs17455073 1 57728262 C C 0 1 0 0 0 0 1 Positive
AutG952CD38rs17476066 4 15852104 T C 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs174828 1 24128365 A A 0 1 0 0 0 0 1 Positive

Page Counts: 22/584  
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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