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
AutG80243PREX2 - 8 69002939 C T 0 0 1 0 0 0 1 Positive
AutG63978PRDM14 - 8 70964491 C A 0 0 1 0 0 0 1 Positive
AutG2138EYA1 - 8 72344450 G A 0 0 1 0 0 0 1
AutG27067STAU2 - 8 74592985 A G 0 0 1 0 0 0 1
AutG27067STAU2 - 8 74600948 T C 0 0 1 0 0 0 1 Positive
AutG441355FLJ39080 - 8 75713612 A T 0 0 1 0 0 0 1
AutG3574IL7 - 8 80514738 G T 0 0 1 0 0 0 1
AutG85444LRRCC1 - 8 86037085 G A 0 0 1 0 0 0 1
AutG85444LRRCC1 - 8 86048065 G A 0 0 1 0 0 0 1
AutG85444LRRCC1 - 8 86048097 C T 0 0 1 0 0 0 1
AutG761CA3 - 8 86356291 A T 0 0 1 0 0 0 1 Positive
AutG54714CNGB3 - 8 87588114 G T 0 0 1 0 0 0 1
AutG168975CNBD1 - 8 88205377 G A 0 0 1 0 0 0 1
AutG168975CNBD1 - 8 88533559 A G 0 0 1 0 0 0 1
AutG138009DCAF4L2 - 8 88885654 G C 0 0 1 0 0 0 1 Positive
AutG4325MMP16 - 8 89068423 G T 0 0 1 0 0 0 1
AutG64168NECAB1 - 8 91821724 G A 0 0 1 0 0 0 1
AutG64168NECAB1 - 8 91821744 T C 0 0 1 0 0 0 1
AutG389677RBM12B - 8 94746964 G A 0 0 1 0 0 0 1
AutG54845ESRP1 - 8 95680394 A 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