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
AutG25782RAB3GAP2rs2577127 - - - - 0 1 0 0 0 0 1 Positive
AutG5187PER1rs2585398 1 8054860 C G 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs2589588 - - - - 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs2589589 - - - - 0 1 0 0 0 0 1 Positive
AutG814CAMK4rs25925 5 110819753 G C 0 1 0 0 0 0 1 Positive
AutG3685ITGAVrs2595389 2 187534183 T A 0 1 0 0 0 0 1 Negative
AutG5860QDPRrs2597773 4 17498167 T G 0 1 0 0 0 0 1 Negative
AutG2561GABRB2rs2617503 - - - - 0 1 0 0 0 0 1 Positive
AutG64757MOSC1rs2642439 - - - - 0 1 0 0 0 0 1 Negative
AutG5649RELNrs264373 - - - - 0 1 0 0 0 0 1 Positive
-rs2657560 - - - - 0 1 0 0 0 0 1 Negative
AutG1812DRD1rs265981 - - - - 0 1 0 0 0 0 1 Positive
AutG84516DCTN5rs26760 1 23680286 A C 0 1 0 0 0 0 1 Negative
AutG5290PIK3CArs2677760 3 178903264 C C 0 1 0 0 0 0 1 Negative
AutG4842NOS1rs2682826 1 117652838 G C 0 1 0 0 0 0 1 Negative
AutG1600DAB1rs2691461 1 58037031 T A 0 1 0 0 0 0 1 Positive
AutG5290PIK3CArs2699887 3 178866408 C A 0 1 0 0 0 0 1 Negative
AutG26047CNTNAP2rs2710093 - - - - 0 1 0 0 0 0 1 Positive
AutG3653IPWrs2732021 1 25304877 C G 0 1 0 0 0 0 1 Negative
AutG1428CRYMrs2733910 1 21285281 C C 0 1 0 0 0 0 1 Negative

Page Counts: 40/584  
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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