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
AutG5728PTEN - 10 89692818 T C 0 0 1 0 0 0 1 Positive
AutG5728PTEN - 10 89692790 G A 0 0 1 0 0 0 1 Positive
AutG5728PTEN - 10 89692790 - - 0 0 1 0 0 0 1 Positive
AutG84896ATAD1 - 10 89552422 T C 0 0 1 0 0 0 1
AutG9060PAPSS2 - 10 89504934 G T 0 0 1 0 0 0 1 Positive
AutG2746GLUD1 - 10 88819023 T C 0 0 1 0 0 0 1 Positive
AutG11155LDB3 - 10 88478538 G T 0 0 1 0 0 0 1 Positive
AutGCCSER2 - 10 86131994 G A 0 0 1 0 0 0 1
AutG26103LRIT1 - 10 85992477 CTCCTGGGCT C 0 0 1 0 0 0 1
AutG6441SFTPD - 10 81702258 - - 0 0 1 0 0 0 1 Positive
AutG100132987LOC100132987 - 10 80321645 C T 0 0 1 0 0 0 1
AutG6229RPS24 - 10 79814442 T A 0 0 1 0 0 0 1
AutG11128POLR3A - 10 79743676 C T 0 0 1 0 0 0 1
AutG9231DLG5 - 10 79569329 G A 0 0 1 0 0 0 1
AutG83938C10orf11 - 10 77830945 C T 0 0 1 0 0 0 1
AutG7417VDAC2 - 10 76970931 A G 0 0 1 0 0 0 1
AutGKAT6B - 10 76781848 C A 0 0 1 0 0 0 1
AutG7414VCL - 10 75860760 A G 0 0 1 0 0 0 1 Positive
AutG8509NDST2 - 10 75566524 C T 0 0 1 0 0 0 1 Positive
AutGZSWIM8 - 10 75560469 C 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