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
AutG2644GCHFRrs2301176 1 41059387 T C 0 1 0 0 0 0 1 Negative
AutG5021OXTRrs2301260 3 8811229 G C 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs2301261 3 8810896 C A 0 1 0 0 0 0 1 Negative
AutG4232MESTrs2301335 - - - - 0 1 0 0 0 0 1 Positive
AutG3675ITGA3rs2301628 1 48148413 G C 0 1 0 0 0 0 1 Negative
AutG7472WNT2rs2301633 - - - - 0 1 0 0 0 0 1 Positive
AutG51422PRKAG2rs2302532 - - - - 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs2303879 1 27772892 G A 0 1 0 0 0 0 1 Negative
AutG8864PER2rs2304669 2 239165663 T A 0 1 0 0 0 0 1 Negative
AutG30061SLC11A3rs2304704 2 190430177 A A 0 1 0 0 0 0 1 Negative
AutG4862NPAS2rs2305158 2 101612051 G C 0 1 0 0 0 0 1 Positive
AutG4862NPAS2rs2305159 2 101591443 A G 0 1 0 0 0 0 1 Positive
AutG4862NPAS2rs2305160 2 101591304 A C 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs2305581 2 182389303 T A 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs2305586 2 182360182 T A 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs2305588 2 182347072 T A 0 1 0 0 0 0 1 Positive
AutG286826LIN9rs2306119 - - - - 0 1 0 0 0 0 1 Negative
AutG5860QDPRrs2315248 4 17506164 G A 0 1 0 0 0 0 1 Negative
AutG1493CTLA4rs231723 2 204739781 A A 0 1 0 0 0 0 1 Negative
AutG59345GNB4rs2339798 3 179173620 C A 0 1 0 0 0 0 1 Positive

Page Counts: 37/584  
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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