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
AutG8604SLC25A12rs17499593 2 172649755 C C 0 1 0 0 0 0 1 Negative
AutG4233METrs17526983 - - - - 0 1 0 0 0 0 1 Positive
AutG8604SLC25A12rs17581284 2 172659376 C C 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs17584152 - - - - 0 1 0 0 0 0 1 Positive
AutG824CAPN2rs17599 - - - - 0 1 0 0 0 0 1 Negative
AutG782CACNB1rs17633541 1 37330010 C C 0 1 0 0 0 0 1 Positive
AutG6856SYPLrs176501 - - - - 0 1 0 0 0 0 1 Positive
AutG3655ITGA6rs17664 2 173369231 A A 0 1 0 0 0 0 1 Negative
-rs17669584 1 28899614 A A 0 1 0 0 0 0 1 Positive
AutG3655ITGA6rs17676243 2 173322809 G A 0 1 0 0 0 0 1 Negative
AutG2058EPRSrs1768673 - - - - 0 1 0 0 0 0 1 Negative
AutG3675ITGA3rs17702032 1 48166141 A A 0 1 0 0 0 0 1 Negative
AutG2534FYNrs17704432 6 112048868 T C 0 1 0 0 0 0 1 Positive
AutG1845DUSP3rs17742347 1 41846468 C C 0 1 0 0 0 0 1 Positive
AutG10651MTX2rs17806377 2 177160814 T A 0 1 0 0 0 0 1 Negative
AutG1813DRD2rs1799732 1 113346251 - - 0 1 0 0 0 0 1 Positive
AutG7166TPH1rs1799913 1 18047255 G A 0 1 0 0 0 0 1 Positive
AutG7040TGFB1rs1800469 1 41860296 A C 0 1 0 0 0 0 1 Negative
AutG1813DRD2rs1800497 1 113270828 G C 0 1 0 0 0 0 1 Positive
AutG1813DRD2rs1800498 1 113291588 G C 0 1 0 0 0 0 1 Positive

Page Counts: 23/584  
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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