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
AutG6532SLC6A4rs2020942 1 28546914 C A 0 6 0 0 0 0 6 Negative
AutG22941SHANK2 - - - - - 0 0 0 0 6 0 6 Positive
AutG3198HOXA1rs10951154 - - - - 0 7 0 0 0 0 7 Negative
AutG3198HOXA1rs10951154 - - - - 0 7 0 0 0 0 7 Positive
AutG4233METrs1858830 - - - - 0 8 0 0 0 0 8 Positive
AutG2020EN2rs1861972 - - - - 0 8 0 0 0 0 8 Positive
AutG10479SLC9A6 - - - - - 0 0 0 0 0 9 9 Positive
AutG8604SLC25A12rs2056202 2 172712480 T C 0 10 0 0 0 0 10 Positive
AutG8604SLC25A12rs2292813 2 172644229 T C 0 10 0 0 0 0 10 Negative
AutG9378NRXN1 - - - - - 0 0 10 0 0 0 10

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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