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
AutG287ANK2 - 4 114254247 C T 0 0 1 0 0 0 1
AutG287ANK2 - 4 114275103 G C 0 0 1 0 0 0 1 Positive
AutG287ANK2 - 4 114302686 - A 0 0 1 0 0 0 1
AutG64579NDST4 - 4 115997959 A R 0 0 1 0 0 0 1
AutG8654PDE5A - 4 120428769 G A 0 0 1 0 0 0 1
AutG4085MAD2L1 - 4 121091055 T C 0 0 1 0 0 0 1
AutGNDNF - 4 121961207 T C 0 0 1 0 0 0 1 Positive
AutG79931TNIP3 - 4 122059804 C T 0 0 1 0 0 0 1
AutG55212BBS7 - 4 122768248 T C 0 0 1 0 0 0 1
AutG84162KIAA1109 - 4 123140507 G A 0 0 1 0 0 0 1 Positive
AutG2247FGF2 - 4 123797538 C T 0 0 1 0 0 0 1 Positive
AutG11162NUDT6 - 4 123814039 T A 0 0 1 0 0 0 1
AutG166378SPATA5 - 4 124177304 T C 0 0 1 0 0 0 1
AutG57182ANKRD50 - 4 125591221 G T 0 0 1 0 0 0 1
AutG79633FAT4 - 4 126240148 T A 0 0 1 0 0 0 1
AutG79633FAT4 - 4 126336650 G A 0 0 1 0 0 0 1
AutG79633FAT4 - 4 126411350 C T 0 0 1 0 0 0 1
AutG79633FAT4 - 4 126411443 G A 0 0 1 0 0 0 1 Positive
AutG27152INTU - 4 128637320 A G 0 0 1 0 0 0 1
AutG22824HSPA4L - 4 128715309 G A 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