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
AutG10580SORBS1 - 10 97098949 CCA C 0 0 1 0 0 0 1
AutG3070HELLS - 10 96322608 A G 0 0 1 0 0 0 1
AutGSLC35G1 - 10 95660507 G C 0 0 1 0 0 0 1
AutG26509MYOF - 10 95079735 G C 0 0 1 0 0 0 1 Positive
AutG3832KIF11 - 10 94373232 AG A 0 0 1 0 0 0 1
AutG387700SLC16A12 - 10 91198564 G A 0 0 1 0 0 0 1
AutG57559STAMBPL1 - 10 90668462 A T 0 0 1 0 0 0 1
AutG643414LIPK - 10 90492540 G A 0 0 1 0 0 0 1
AutG5728PTE - 10 89721902 C - 0 0 1 0 0 0 1
AutG5728PTEN - 10 89711882 - - 0 0 1 0 0 0 1
AutG5728PTEN - 10 89711874 G A 0 0 1 0 0 0 1
AutG5728PTE - 10 89702940 - - 0 0 1 0 0 0 1
AutG5728PTE - 10 89702928 C - 0 0 1 0 0 0 1
AutG5728PTEN - 10 89692960 C T 0 0 1 0 0 0 1
AutG5728PTE - 10 89692920 T TA 0 0 1 0 0 0 1
AutG5728PTEN - 10 89692920 * +A/* 0 0 1 0 0 0 1
AutG5728PTEN - 10 89692908 C Y 0 0 1 0 0 0 1 Positive
AutG5728PTE - 10 89692908 C T 0 0 1 0 0 0 1 Positive
AutG5728PTEN - 10 89692908 - - 0 0 1 0 0 0 1 Positive
AutG5728PTEN - 10 89692836 A T 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