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
AutG84908FAM136A - 2 70529121 C A 0 0 1 0 0 0 1 Positive
AutG50489CD207 - 2 71062628 C T 0 0 1 0 0 0 1
AutG27332ZNF638 - 2 71577361 AT A 0 0 1 0 0 0 1
AutG27332ZNF638 - 2 71649966 A G 0 0 1 0 0 0 1
AutG8291DYSF - 2 71788955 C T 0 0 1 0 0 0 1 Positive
AutG8291DYSF - 2 71797809 C T 0 0 1 0 0 0 1
AutG26056RAB11FIP5 - 2 73339563 G A 0 0 1 0 0 0 1 Positive
AutG8446DUSP11 - 2 73989820 A T 0 0 1 0 0 0 1
AutG10617STAMBP - 2 74072000 GAA G 0 0 1 0 0 0 1
AutG57835SLC4A5 - 2 74460634 C T 0 0 1 0 0 0 1
AutG57835SLC4A5 - 2 74483044 T C 0 0 1 0 0 0 1 Positive
AutG7841MOGS - 2 74689442 C T 0 0 1 0 0 0 1
AutG6869TACR1 - 2 75459187 A G 0 0 1 0 0 0 1
AutG84141FAM176A - 2 75732065 G A 0 0 1 0 0 0 1
AutG80059LRRTM4 - 2 77624540 T G 0 0 1 0 0 0 1
AutG80059LRRTM4 - 2 78074544 A G 0 0 1 0 0 0 1
AutG1496CTNNA2 - 2 80847447 C T 0 0 1 0 0 0 1
AutG1496CTNNA2 - 2 81033107 G A 0 0 1 0 0 0 1
AutG1496CTNNA2 - 2 82490490 C T 0 0 1 0 0 0 1
AutG1720LOC1720 - 2 83289032 C T 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