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
AutG558AXL - 19 41759516 C T 0 0 1 0 0 0 1
AutG1087CEACAM7 - 19 42187993 C T 0 0 1 0 0 0 1
AutG1084CEACAM3 - 19 42318644 T C 0 0 1 0 0 0 1
AutG147719LYPD4 - 19 42343030 TC T 0 0 1 0 0 0 1
AutG973CD79A - 19 42384953 G T 0 0 1 0 0 0 1
AutG9138ARHGEF1 - 19 42410172 G A 0 0 1 0 0 0 1
AutG478ATP1A3 - 19 42474692 G A 0 0 1 0 0 0 1 Positive
AutG478ATP1A3 - 19 42489176 A G 0 0 1 0 0 0 1 Positive
AutG2901GRIK5 - 19 42507510 T C 0 0 1 0 0 0 1
AutG2901GRIK5 - 19 42546852 C T 0 0 1 0 0 0 1
AutG2901GRIK5 - 19 42563657 C A 0 0 1 0 0 0 1
AutG64763ZNF574 - 19 42583760 C T 0 0 1 0 0 0 1
AutG116115ZNF526 - 19 42730427 G A 0 0 1 0 0 0 1
AutG2077ERF - 19 42753716 G A 0 0 1 0 0 0 1
AutG23152CIC - 19 42777516 C T 0 0 1 0 0 0 1
AutG284338PRR19 - 19 42813829 G C 0 0 1 0 0 0 1
AutG3991LIPE - 19 42910539 G R 0 0 1 0 0 0 1
AutG5680PSG11 - 19 43529205 A G 0 0 1 0 0 0 1
AutG57126CD177 - 19 43864537 C T 0 0 1 0 0 0 1
AutG79177ZNF576 - 19 44103310 C T 0 0 1 0 0 0 1

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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