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
AutG57501KIAA1257 - 3 128711946 C A 0 0 0 0 1 0 1
AutG9922IQSEC1 - 3 12955034 G A 0 0 0 0 1 0 1
AutG131873COL6A6 - 3 130282383 C A 0 0 0 0 1 0 1
AutG11222MRPL3 - 3 131188574 A G 0 0 0 0 1 0 1
AutG53833IL20RB - 3 136856072 T - 0 0 0 0 1 0 1
AutGLINC01210 - 3 137583348 A G 0 0 0 0 1 0 1
AutG51146A4GNT - 3 137849888 C T 0 0 0 0 1 0 1
AutG56945MRPS22 - 3 139065865 G A 0 0 0 0 1 0 1
AutG349565NMNAT3 - 3 139493652 G T 0 0 0 0 1 0 1
AutG64084CLSTN2 - 3 140103216 G - 0 0 0 0 1 0 1
AutG545ATR - 3 142281298 C T 0 0 0 0 1 0 1
AutG185AGTR1 - 3 148459552 G T 0 0 0 0 1 0 1
AutG1359CPA3 - 3 148589819 C A 0 0 0 0 1 0 1
AutG285313IGSF10 - 3 151154509 C T 0 0 0 0 1 0 1
AutG9467SH3BP5 - 3 15297787 T C 0 0 0 0 1 0 1
AutG6474SHOX2 - 3 157820628 G A 0 0 0 0 1 0 1
AutG101928376IL12A-AS1 - 3 159925257 A G 0 0 0 0 1 0 1
AutG80012PHC3 - 3 169831268 T C 0 0 0 0 1 0 1
AutG200916RPL22L1 - 3 170584249 C A 0 0 0 0 1 0 1
AutG51555PEX5L - 3 179605524 C T 0 0 0 0 1 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