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
AutG7273TTN - 2 179437710 - - 0 0 1 0 0 0 1
AutG7273TTN - 2 179439424 C A 0 0 1 0 0 0 1
AutG7273TTN - 2 179447820 G T 0 0 1 0 0 0 1
AutG7273TTN - 2 179486354 C G 0 0 1 0 0 0 1 Positive
AutG7273TTN - 2 179575512 G A 0 0 1 0 0 0 1
AutG7273TTN - 2 179582496 C T 0 0 1 0 0 0 1
AutG7273TTN - 2 179584745 C T 0 0 1 0 0 0 1 Positive
AutG7273TTN - 2 179634424 C G 0 0 1 0 0 0 1 Positive
AutG7273TTN - 2 179641336 C T 0 0 1 0 0 0 1
AutG285025CCDC141 - 2 179783568 C T 0 0 1 0 0 0 1
AutG285025CCDC141 - 2 179833587 A G 0 0 1 0 0 0 1
AutG10477UBE2E3 - 2 182123575 A C 0 0 1 0 0 0 1
AutG151242PPP1R1C - 2 182998846 A G 0 0 1 0 0 0 1
AutG54431DNAJC10 - 2 183583006 AT A 0 0 1 0 0 0 1
AutG10787NCKAP1 - 2 183791570 C A 0 0 1 0 0 0 1
AutG10787NCKAP1 - 2 183792844 C C/T 0 0 1 0 0 0 1
AutG10787NCKAP1 - 2 183866861 C CCA 0 0 1 0 0 0 1
AutG3685ITGAV - 2 187541639 GTTTT G 0 0 1 0 0 0 1
AutG1290COL5A2 - 2 189907974 C T 0 0 1 0 0 0 1 Positive
AutG84128WDR75 - 2 190313139 G A 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