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
AutG338323NLRP14 - 11 7079615 G A 0 0 0 0 1 0 1
AutG1717DHCR7 - 11 71146886 C G 0 0 0 0 1 0 1
AutG64787EPS8L2 - 11 720080 A T 0 0 0 0 1 0 1
AutG26005C2CD3 - 11 73849935 A T 0 0 0 0 1 0 1
AutG26005C2CD3 - 11 73850002 G C 0 0 0 0 1 0 1
AutG387787LIPT2 - 11 74203256 T A 0 0 0 0 1 0 1
AutG341152OR2AT4 - 11 74800417 A C 0 0 0 0 1 0 1
AutG283219KCTD21 - 11 77885347 A G 0 0 0 0 1 0 1
AutG57558USP35 - 11 77921348 G A 0 0 0 0 1 0 1
AutG9846GAB2 - 11 77961261 C T 0 0 0 0 1 0 1
AutGTENM4 - 11 79786165 T C 0 0 0 0 1 0 1
AutG60494CCDC81 - 11 86126337 T G 0 0 0 0 1 0 1
AutG7299TYR - 11 88911734 C A 0 0 0 0 1 0 1
AutG7299TYR - 11 88961072 C A 0 0 0 0 1 0 1
AutG56674TMEM9B - 11 8969931 G T 0 0 0 0 1 0 1
AutG57758SCUBE2 - 11 9043479 G C 0 0 0 0 1 0 1
AutG101929222DISC1FP1 - 11 91579801 A T 0 0 0 0 1 0 1
AutGJRKL-AS1 - 11 97457504 ACAC - 0 0 0 0 1 0 1
AutG55576STAB2 - 12 104138980 G A 0 0 0 0 1 0 1
AutG728568C12orf73 - 12 104350408 C T 0 0 0 0 1 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