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
AutGMIS18A - 21 33651218 G A 0 0 1 0 0 0 1
AutG56246MRAP - 21 33671388 C T 0 0 1 0 0 0 1
AutG9875URB1 - 21 33757868 G A 0 0 1 0 0 0 1
AutG6651SON - 21 34945653 G A 0 0 1 0 0 0 1 Positive
AutG9946CRYZL1 - 21 34963511 T C 0 0 1 0 0 0 1
AutG6453ITSN1 - 21 35190683 CAT C 0 0 1 0 0 0 1
AutG6453ITSN1 - 21 35260537 T G 0 0 1 0 0 0 1 Positive
AutGLINC00310 - 21 35671904 G A 0 0 1 0 0 0 1
AutG861RUNX1 - 21 36860172 G A 0 0 1 0 0 0 1
AutG23515MORC3 - 21 37711086 T G 0 0 1 0 0 0 1
AutG23515MORC3 - 21 37744772 CAG C 0 0 1 0 0 0 1
AutG51227PIGP - 21 38441914 G A 0 0 1 0 0 0 1
AutG1859DYRK1A - 21 38845116 * -AT/* 0 0 1 0 0 0 1
AutG1859DYRK1A - 21 38845116 CAT C 0 0 1 0 0 0 1
AutG1859DYRK1A - 21 38850535 AC A 0 0 1 0 0 0 1
AutG1859DYRK1A - 21 38853069 G G/T 0 0 1 0 0 0 1
AutG1859DYRK1A - 21 38853069 G T 0 0 1 0 0 0 1
AutG1859DYRK1A - 21 38862503 C T 0 0 1 0 0 0 1
AutG1859DYRK1A - 21 38877659 G A/G 0 0 1 0 0 0 1 Positive
AutG1859DYRK1A - 21 38877833 * -C/* 0 0 1 0 0 0 1

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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