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
AutG123879DCUN1D3 - 16 20873859 A G 0 0 1 0 0 0 1 Positive
AutG55567DNAH3 - 16 20994072 A G 0 0 1 0 0 0 1
AutG7783ZP2 - 16 21214376 A T 0 0 1 0 0 0 1
AutG7783ZP2 - 16 21214377 C T 0 0 1 0 0 0 1
AutG7385UQCRC2 - 16 21987556 A T 0 0 1 0 0 0 1 Positive
AutG1039CDR2 - 16 22420925 C T 0 0 1 0 0 0 1
AutGPIPB5 - 16 22545935 C G 0 0 1 0 0 0 1
AutG84516DCTN5 - 16 23678493 - - 0 0 1 0 0 0 1
AutG84516DCTN5 - 16 23678493 T C 0 0 1 0 0 0 1
AutG10595ERN2 - 16 23718354 C T 0 0 1 0 0 0 1 Positive
AutG5579PRKCB - 16 24105500 G A 0 0 1 0 0 0 1 Positive
AutG5930RBBP6 - 16 24580513 T C 0 0 1 0 0 0 1
AutG162083C16orf82 - 16 27078590 G A 0 0 1 0 0 0 1
AutG2975GTF3C1 - 16 27517395 G T 0 0 1 0 0 0 1 Positive
AutG2975GTF3C1 - 16 27544696 G A 0 0 1 0 0 0 1
AutG23247KIAA0556 - 16 27692808 C M 0 0 1 0 0 0 1
AutGAPOBR - 16 28509202 A G 0 0 1 0 0 0 1
AutG246778IL27 - 16 28510980 G A 0 0 1 0 0 0 1
AutG25970SH2B1 - 16 28877932 C CG 0 0 1 0 0 0 1
AutG84901NFATC2IP - 16 28965874 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