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
AutG23389MED13L - 12 116420323 T C/T 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116422094 C A/C 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116429431 A A/G 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116440906 G C/G 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116445225 T G/T 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116446308 C C/T 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116446617 C A/C 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116446833 G A/G 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116446920 C C/T 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116457643 T C/T 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116457645 G A/G 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116534535 C C/T 0 0 0 0 1 0 1 Positive
AutG79794C12orf49 - 12 117175608 C T 0 0 0 0 1 0 1
AutG11113CIT - 12 120220431 C T 0 0 0 0 1 0 1
AutG5025P2RX4 - 12 121666863 G A 0 0 0 0 1 0 1
AutG79370BCL2L14 - 12 12247836 C T 0 0 0 0 1 0 1
AutG6249CLIP1 - 12 122825398 C T 0 0 0 0 1 0 1
AutG23457ABCB9 - 12 123444365 G A 0 0 0 0 1 0 1
AutG91574C12orf65 - 12 123738265 G A 0 0 0 0 1 0 1
AutG23545ATP6V0A2 - 12 124241506 C T 0 0 0 0 1 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