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
AutG84901NFATC2IP - 16 28967316 C A 0 0 1 0 0 0 1
AutG84901NFATC2IP - 16 28970388 G A 0 0 1 0 0 0 1
AutG26470SEZ6L2 - 16 29891363 G A 0 0 1 0 0 0 1
AutG9344TAOK2 - 16 30002794 TGGGCCCCCCTGCTGCCGCGGTGCCC T 0 0 1 0 0 0 1
AutG5595MAPK3 - 16 30128549 C T 0 0 1 0 0 0 1 Positive
AutG3683ITGAL - 16 30529129 C T 0 0 1 0 0 0 1
AutG3683ITGAL - 16 30529146 G A 0 0 1 0 0 0 1
AutG78994PRR14 - 16 30666220 G A 0 0 1 0 0 0 1
AutG64319FBRS - 16 30676715 A C 0 0 1 0 0 0 1 Positive
AutG64319FBRS - 16 30679970 T C 0 0 1 0 0 0 1
AutG10847SRCAP - 16 30718664 G A 0 0 1 0 0 0 1 Positive
AutG10847SRCAP - 16 30727385 - G 0 0 1 0 0 0 1
AutG10847SRCAP - 16 30740737 ATGCC A 0 0 1 0 0 0 1
AutG10847SRCAP - 16 30745033 TGACAGCGACTG T 0 0 1 0 0 0 1
AutG10847SRCAP - 16 30747939 G C 0 0 1 0 0 0 1
AutG9810RNF40 - 16 30778067 C T 0 0 1 0 0 0 1
AutG9810RNF40 - 16 30778120 C T 0 0 1 0 0 0 1 Positive
AutG9739SETD1A - 16 30975596 C T 0 0 1 0 0 0 1
AutG9739SETD1A - 16 30981006 G A 0 0 1 0 0 0 1
AutGAC135050.1 - 16 31072989 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