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
AutG26523EIF2C1 - 1 36367118 C T 0 0 1 0 0 0 1 Positive
AutGEIF2C1/AGO1 - 1 36360835 GG AA 0 0 1 0 0 0 1
AutGAGO1 - 1 36359358 G T 0 0 1 0 0 0 1 Positive
AutGAGO4 - 1 36307019 C T 0 0 1 0 0 0 1 Positive
AutG192670EIF2C4 - 1 36306838 G T 0 0 1 0 0 0 1
AutG192670EIF2C4 - 1 36282630 G T 0 0 1 0 0 0 1
AutG23154NCDN - 1 36026645 C T 0 0 1 0 0 0 1
AutG9202ZMYM4 - 1 35852825 A T 0 0 1 0 0 0 1 Positive
AutG6421SFPQ - 1 35656105 T Y 0 0 1 0 0 0 1
AutG9204ZMYM6 - 1 35453426 C T 0 0 1 0 0 0 1
AutG57648KIAA1522 - 1 33236926 C G 0 0 1 0 0 0 1
AutG55108BSDC1 - 1 32852480 CCA C 0 0 1 0 0 0 1
AutG55721IQCC - 1 32672714 G A 0 0 1 0 0 0 1 Positive
AutG55116TMEM39B - 1 32557520 A G 0 0 1 0 0 0 1 Positive
AutG8073PTP4A2 - 1 32374546 C T 0 0 1 0 0 0 1
AutG3061HCRTR1 - 1 32090596 G C 0 0 1 0 0 0 1
AutG347735SERINC2 - 1 31905923 C G 0 0 1 0 0 0 1
AutG9410SNRNP40 - 1 31754296 C A 0 0 1 0 0 0 1
AutG9698PUM1 - 1 31437728 G A 0 0 1 0 0 0 1 Positive
AutG9672SDC3 - 1 31349764 T 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