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
AutG9412MED21 - 12 27180296 T G 0 0 1 0 0 0 1 Positive
AutG3709ITPR2 - 12 27007721 C T 0 0 1 0 0 0 1
AutG8082SSPN - 12 26377307 A G 0 0 1 0 0 0 1
AutG6660SOX5 - 12 24573279 G A 0 0 1 0 0 0 1
AutG6660SOX5 - 12 23999045 G A 0 0 1 0 0 0 1
AutG6489ST8SIA1 - 12 22441359 G A 0 0 1 0 0 0 1
AutG6489ST8SIA1 - 12 22441355 G A 0 0 1 0 0 0 1
AutG55907CMAS - 12 22215336 T C 0 0 1 0 0 0 1
AutG2998GYS2 - 12 21713361 G A 0 0 1 0 0 0 1
AutG10599SLCO1B1 - 12 21353475 A T 0 0 1 0 0 0 1 Positive
AutG10599SLCO1B1 - 12 21353467 C G 0 0 1 0 0 0 1
AutG28234SLCO1B3 - 12 21028412 G A 0 0 1 0 0 0 1
AutG53919SLCO1C1 - 12 20890190 G T 0 0 1 0 0 0 1
AutG53919SLCO1C1 - 12 20864352 A R 0 0 1 0 0 0 1
AutG5139PDE3A - 12 20809161 C A 0 0 1 0 0 0 1
AutG5288PIK3C2G - 12 18510220 C T 0 0 1 0 0 0 1
AutG2984GUCY2C - 12 14811276 A G 0 0 1 0 0 0 1
AutG2904GRI2B - 12 14127776 - - 0 0 1 0 0 0 1
AutG2904GRI2B - 12 14019043 T TG 0 0 1 0 0 0 1
AutG2904GRIN2B - 12 14019043 * +G/* 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