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
AutG2562GABRB3rs2059574 1 26997043 A A 0 1 0 0 0 0 1 Negative
AutG93986FOXP2rs2061183 - - - - 0 1 0 0 0 0 1 Negative
AutG57194ATP10Ars2066705 1 25937004 C A 0 1 0 0 0 0 1 Negative
AutG6532SLC6A4rs2066713 1 28551665 G C 0 1 0 0 0 0 1
AutG2243FGArs2070011 4 155511897 T A 0 1 0 0 0 0 1 Positive
AutG2243FGArs2070025 4 155511824 T A 0 1 0 0 0 0 1 Positive
AutG6863TAC1rs2072100 - - - - 0 1 0 0 0 0 1 Negative
AutG5649RELNrs2072403 - - - - 0 1 0 0 0 0 1 Positive
AutG6505SLC1A1rs2072657 9 4576451 T G 0 1 0 0 0 0 1 Negative
AutG64581CLEC7Ars2078178 1 10276562 A C 0 1 0 0 0 0 1 Positive
AutG93986FOXP2rs2106900 - - - - 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs2129575 1 72340073 G G 0 1 0 0 0 0 1 Positive
AutG3912LAMB1rs2158836 - - - - 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs2160517 1 13705892 T A 0 1 0 0 0 0 1
AutG2904GRIN2Brs2160732 1 13981326 A A 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs2160734 1 13984349 C C 0 1 0 0 0 0 1
AutG6638SNRPNrs2167926 1 25093709 T A 0 1 0 0 0 0 1 Positive
rs2180055 2 49336423 C C 0 1 0 0 0 0 1 Positive
AutG63974NEUROD6rs2191888 - - - - 0 1 0 0 0 0 1 Negative
AutG2904GRIN2Brs2192973 1 13896555 A C 0 1 0 0 0 0 1 Positive

Page Counts: 93/584  
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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