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
AutG121278TPH2rs4570625 1 72331923 G G 0 2 0 0 0 0 2 Negative
AutG2571GAD1rs4668331 2 171706247 A A 0 2 0 0 0 0 2 Positive
AutG2020EN2rs4717034 - - - - 0 2 0 0 0 0 2 Positive
AutG2969GTF2Irs4717907 - - - - 0 2 0 0 0 0 2 Positive
AutG2739GLO1rs4746 6 38650628 T A 0 2 0 0 0 0 2 Negative
AutG7461CYLN2rs480487 - - - - 0 2 0 0 0 0 2 Negative
AutG4139MARK1rs4846655 - - - - 0 2 0 0 0 0 2 Positive
AutG7461CYLN2rs523434 - - - - 0 2 0 0 0 0 2 Negative
AutG3082HGFrs5745616 - - - - 0 2 0 0 0 0 2 Negative
AutG3082HGFrs5745752 - - - - 0 2 0 0 0 0 2 Negative
AutG5649RELNrs607755 - - - - 0 2 0 0 0 0 2 Positive
AutG2020EN2rs6150410 - - - - 0 2 0 0 0 0 2 Positive
AutG627BDNFrs6265 1 27679916 C A 0 2 0 0 0 0 2 Negative
AutG2560GABRB1rs6287 4 47408665 A A 0 2 0 0 0 0 2 Negative
AutG6532SLC6A4rs6354 1 28549898 G A 0 2 0 0 0 0 2 Negative
AutG2557GABRA4rs6447517 4 46928746 A A 0 2 0 0 0 0 2 Positive
AutG2567GABRG3rs6606891 1 27505136 C C 0 2 0 0 0 0 2 Negative
AutG27185DISC1rs6675281 - - - - 0 2 0 0 0 0 2 Positive
AutG4139MARK1rs6695583 - - - - 0 2 0 0 0 0 2 Positive
AutG2571GAD1rs6755814 2 171666997 C A 0 2 0 0 0 0 2 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