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
AutG5079PAX5 - 9 37033983 C G 0 0 1 0 0 0 1 Positive
AutG64425POLR1E - 9 37498215 - - 0 0 1 0 0 0 1
AutG26267FBXO10 - 9 37541606 C Y 0 0 1 0 0 0 1
AutG79269DCAF10 - 9 37860178 T G 0 0 1 0 0 0 1
AutG79269DCAF10 - 9 37861232 T C 0 0 1 0 0 0 1
AutG6461SHB - 9 37974819 T C 0 0 1 0 0 0 1
AutG79937CTAP3 - 9 39078705 G A 0 0 1 0 0 0 1
AutG728747AKRD20A4 - 9 69409974 G A 0 0 1 0 0 0 1
AutG9414TJP2 - 9 71849443 T C 0 0 1 0 0 0 1
AutG9413FAM189A2 - 9 71986456 A C 0 0 1 0 0 0 1
AutG375743PTAR1 - 9 72333476 G C 0 0 1 0 0 0 1
AutG7763ZFAND5 - 9 74975090 G A 0 0 1 0 0 0 1
AutG117531TMC1 - 9 75431105 TC T 0 0 1 0 0 0 1
AutG301ANXA1 - 9 76547483 A C 0 0 1 0 0 0 1
AutG140803TRPM6 - 9 77353333 A T 0 0 1 0 0 0 1
AutG140803TRPM6 - 9 77353334 A T 0 0 1 0 0 0 1
AutG140803TRPM6 - 9 77416901 G T 0 0 1 0 0 0 1 Positive
AutG5125PCSK5 - 9 78628325 A C 0 0 1 0 0 0 1
AutG158471PRUNE2 - 9 79323453 C T 0 0 1 0 0 0 1
AutG23230VPS13A - 9 79930228 AAGTC 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