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
AutG2984GUCY2C - 12 14805939 C T 0 0 0 3 0 0 3
AutG55218EXD2 - 14 69701564 G C 0 0 0 3 0 0 3 Positive
AutG23054NCOA6 - 20 33330216 C T 0 0 0 3 0 0 3 Positive
AutG118429ANTXR2 - 4 80954694 C T 0 0 0 3 0 0 3 Positive
AutG340533KIAA2022 - X - - - 0 0 0 0 0 3 3 Positive
AutG5013OTX1rs13000344 2 63289734 T G 0 4 0 0 0 0 4 Positive
AutG2567GABRG3rs140679 1 27772676 C C 0 4 0 0 0 0 4 Negative
AutG2562GABRB3rs1426217 1 26821125 A C 0 4 0 0 0 0 4 Positive
AutG5013OTX1rs2018650 - - - - 0 4 0 0 0 0 4 Positive
AutG6532SLC6A4rs2066713 1 28551665 G C 0 4 0 0 0 0 4 Positive
AutG2562GABRB3rs2081648 1 26798199 T A 0 4 0 0 0 0 4 Positive
AutG3690ITGB3rs2317385 1 45329682 G C 0 4 0 0 0 0 4
AutG5021OXTRrs237885 3 8795543 T G 0 4 0 0 0 0 4 Negative
AutG26047CNTNAP2rs2710102 - - - - 0 4 0 0 0 0 4
AutG5649RELNrs362691 - - - - 0 4 0 0 0 0 4 Positive
AutG2020EN2rs3735653 - - - - 0 4 0 0 0 0 4 Negative
AutG4233METrs38845 - - - - 0 4 0 0 0 0 4 Positive
AutG5021OXTRrs53576 3 8804371 A A 0 4 0 0 0 0 4 Positive
AutG3356HTR2Ars6311 1 47471478 C C 0 4 0 0 0 0 4 Negative
AutG7514XPO1rs6735330 2 61731478 G A 0 4 0 0 0 0 4 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