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
AutG23317DNAJC13 - 3 132175637 C T 0 0 1 0 0 0 1 Positive
AutG23317DNAJC13 - 3 132247145 C T 0 0 1 0 0 0 1 Positive
AutG84129ACAD11 - 3 132277795 A C 0 0 1 0 0 0 1
AutG66000TMEM108 - 3 132910706 G A 0 0 1 0 0 0 1
AutG11073TOPBP1 - 3 133372233 AT - 0 0 1 0 0 0 1
AutG51560RAB6B - 3 133549522 G C 0 0 1 0 0 0 1
AutG6578SLCO2A1 - 3 133653644 C T 0 0 1 0 0 0 1
AutG6259RYK - 3 133896766 T A 0 0 1 0 0 0 1
AutG55167MSL2 - 3 135871025 TCAGA T 0 0 1 0 0 0 1
AutG10274STAG1 - 3 136139953 C A 0 0 1 0 0 0 1
AutG53833IL20RB - 3 136708288 C G 0 0 1 0 0 0 1
AutG53833IL20RB - 3 136799486 C G 0 0 1 0 0 0 1
AutG199221DZIP1L - 3 137799496 GCTCTGGACCCCAT G 0 0 1 0 0 0 1
AutG51163DBR1 - 3 137885960 T Y 0 0 1 0 0 0 1
AutG347736TXNDC6 - 3 138038425 T C 0 0 1 0 0 0 1
AutG5947RBP1 - 3 139257724 T C 0 0 1 0 0 0 1
AutG253461ZBTB38 - 3 141163172 C G 0 0 1 0 0 0 1
AutG256356GK5 - 3 141884477 T C 0 0 1 0 0 0 1 Positive
AutG54464XRN1 - 3 142083987 C T 0 0 1 0 0 0 1 Positive
AutG54464XRN1 - 3 142139977 G GT 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