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
AutG57194ATP10Ars1444623 1 26012544 A A 0 1 0 0 0 0 1 Negative
AutG11000SLC27A3rs144727289 - - - - 0 1 0 0 0 0 1 Negative
AutG53942CNTN5rs1453576 1 99818829 A A 0 1 0 0 0 0 1 Positive
AutG93986FOXP2rs1456029 - - - - 0 1 0 0 0 0 1 Negative
AutG11000SLC27A3rs146128753 - - - - 0 1 0 0 0 0 1 Negative
AutG4128MAOArs1465107 X 43538017 A A 0 1 0 0 0 0 1
AutG6505SLC1A1rs1471786 9 4576774 G A 0 1 0 0 0 0 1 Negative
AutG11000SLC27A3rs147251588 - - - - 0 1 0 0 0 0 1 Negative
AutG10999SLC27A4rs148684713 9 131107679 G A 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs1487275 1 72410292 C G 0 1 0 0 0 0 1 Positive
AutG11000SLC27A3rs149047357 - - - - 0 1 0 0 0 0 1 Negative
AutG627BDNFrs1491851 1 27752763 T C 0 1 0 0 0 0 1 Positive
AutGDMT1rs149411 - - - - 0 1 0 0 0 0 1 Positive
AutG6263RYR3rs1495280 1 33927764 C C 0 1 0 0 0 0 1 Negative
AutG27255CNTN6rs1504076 3 1154559 A C 0 1 0 0 0 0 1 Positive
AutGDMT1rs150909 - - - - 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs151257822 3 8794832 C C 0 1 0 0 0 0 1
AutG6638SNRPNrs1549477 1 25332118 C C 0 1 0 0 0 0 1 Positive
AutG6638SNRPNrs1549478 1 25332200 T C 0 1 0 0 0 0 1 Positive
AutG9086EIF1AYrs1558843 Y 22750583 A A 0 1 0 0 0 0 1 Positive

Page Counts: 89/584  
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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