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
AutG55770EXOC2 - 6 553870 T C 0 0 1 0 0 0 1 Positive
AutG2762GMDS - 6 1961168 G A 0 0 1 0 0 0 1
AutG56897WRNIP1 - 6 2784633 G A 0 0 1 0 0 0 1 Positive
AutG8737RIPK1 - 6 3083327 C G 0 0 1 0 0 0 1 Positive
AutG389362PSMG4 - 6 3263960 G R 0 0 1 0 0 0 1
AutG63027SLC22A23 - 6 3273431 G A 0 0 1 0 0 0 1
AutG63027SLC22A23 - 6 3284159 CCACGATGGAAAA C 0 0 1 0 0 0 1
AutGPXDC1 - 6 3726809 A T 0 0 1 0 0 0 1
AutG10799RPP40 - 6 4996306 - - 0 0 1 0 0 0 1
AutG6745SSR1 - 6 7299010 ATAACTG A 0 0 1 0 0 0 1
AutG2651GCNT2 - 6 10529778 G A 0 0 1 0 0 0 1 Positive
AutG2651GCNT2 - 6 10586330 G T 0 0 1 0 0 0 1
AutG55003PAK1IP1 - 6 10695304 T G 0 0 1 0 0 0 1
AutG4117MAK - 6 10802142 G A 0 0 1 0 0 0 1
AutG9247GCM2 - 6 10874703 C T 0 0 1 0 0 0 1
AutGC6orf228 - 6 11100341 T C 0 0 1 0 0 0 1
AutGADTRP - 6 11723582 C T 0 0 1 0 0 0 1
AutG3096HIVEP1 - 6 12123505 A G 0 0 1 0 0 0 1
AutG3096HIVEP1 - 6 12164097 C T 0 0 1 0 0 0 1
AutG10048RANBP9 - 6 13625977 G A 0 0 1 0 0 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