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
AutG148979GLIS1rs12080993 1 54178501 G A 1 0 0 0 0 0 1 Positive
rs12173236 5 26071476 C C 1 0 0 0 0 0 1 Positive
rs12187724 5 25935070 A A 1 0 0 0 0 0 1 Positive
rs12366025 1 29148890 G A 1 0 0 0 0 0 1 Positive
AutG8537BCAS1rs12479663 2 52708752 A A 1 0 0 0 0 0 1 Positive
rs12514304 5 26057117 G G 1 0 0 0 0 0 1 Positive
AutG1008CDH10rs12518194 5 25951561 A A 1 0 0 0 0 0 1 Positive
rs12519594 5 25934805 G A 1 0 0 0 0 0 1 Positive
rs12521157 5 25869401 C C 1 0 0 0 0 0 1 Positive
rs12521388 5 25912113 G A 1 0 0 0 0 0 1 Positive
AutG83943IMMP2Lrs12531640 - - - - 1 0 0 0 0 0 1 Positive
AutG10165SLC25A13rs12538145 - - - - 1 0 0 0 0 0 1 Positive
rs12543592 8 123511652 A A 1 0 0 0 0 0 1 Positive
AutG130940CCDC148rs12620556 2 159196771 T C 1 0 0 0 0 0 1 Positive
rs12697669 5 25919023 C A 1 0 0 0 0 0 1 Positive
AutG254170FBXO33rs12897470 1 40825840 G A 1 0 0 0 0 0 1 Positive
rs13007575 2 174678379 T C 1 0 0 0 0 0 1 Positive
AutG4036LRP2rs13014164 2 170271231 T G 1 0 0 0 0 0 1 Positive
AutG9839ZEB2rs13020329 2 146939193 A A 1 0 0 0 0 0 1 Positive
rs13166776 5 25971356 T C 1 0 0 0 0 0 1 Positive

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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