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
AutG83943IMMP2Lrs12537269 - - - - 1 0 0 0 0 0 1 Negative
AutG10165SLC25A13rs12538145 - - - - 1 0 0 0 0 0 1 Negative
AutG81551STMN4rs12541011 8 27104497 C C 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs12541668 8 27105399 C A 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs12542148 8 27111265 C C 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs12542220 8 27111546 C C 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs12542830 8 27111998 C C 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs12546017 8 27118605 A A 1 0 0 0 0 0 1 Positive
rs12549180 - - - - 1 0 0 0 0 0 1
AutG81551STMN4rs12549968 8 27108413 C A 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs12550034 8 27096145 G C 1 0 0 0 0 0 1 Positive
AutG100131211TMEM194Brs12622496 2 191399013 T C 1 0 0 0 0 0 1 Positive
AutG375612LHFPL3rs12666599 - - - - 1 0 0 0 0 0 1 Negative
AutG81551STMN4rs12675791 8 27094644 G A 1 0 0 0 0 0 1 Positive
AutG23362PSD3rs12676446 - - - - 1 0 0 0 0 0 1 Positive
rs12697669 5 25919023 C A 1 0 0 0 0 0 1 Positive
AutGNoners12701862 - - - - 1 0 0 0 0 0 1 Positive
AutG6561SLC13A1rs12706494 - - - - 1 0 0 0 0 0 1 Negative
AutG55356SLC22A15rs12726299 1 116525672 G A 1 0 0 0 0 0 1 Positive
AutG3587IL10RArs12790242 1 117842292 G A 1 0 0 0 0 0 1 Positive

Page Counts: 114/584  
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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