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
AutG4781NFIB - 9 14150143 C T 0 0 1 0 0 0 1
AutGCCDC171 - 9 15784693 G A 0 0 1 0 0 0 1
AutG203238C9orf93 - 9 15930797 A G 0 0 1 0 0 0 1
AutG6456SH3GL2 - 9 17934643 C T 0 0 1 0 0 0 1
AutG55667DENND4C - 9 19360248 T G 0 0 1 0 0 0 1
AutG6194RPS6 - 9 19379608 G A 0 0 1 0 0 0 1
AutG340485ACER2 - 9 19446308 G C 0 0 1 0 0 0 1 Positive
AutG25769SLC24A2 - 9 19619608 A T 0 0 1 0 0 0 1 Positive
AutG54914KIAA1797 - 9 20926307 C T 0 0 1 0 0 0 1
AutG401494PTPLAD2 - 9 21015926 G A 0 0 1 0 0 0 1
AutG3441IFNA4 - 9 21187406 C - 0 0 1 0 0 0 1
AutG441389FLJ35282 - 9 22768115 T G 0 0 1 0 0 0 1
AutG1993ELAVL2 - 9 23692707 CACGGATG C 0 0 1 0 0 0 1
AutG286319TUSC1 - 9 25677688 C T 0 0 1 0 0 0 1
AutG79886C9orf82 - 9 26897651 C A 0 0 1 0 0 0 1
AutGEQTN - 9 27291044 G T 0 0 1 0 0 0 1
AutG158038LINGO2 - 9 28359590 A T 0 0 1 0 0 0 1
AutG100126316MIR873 - 9 28949137 C T 0 0 1 0 0 0 1
AutG100126316MIR873 - 9 29256360 T C 0 0 1 0 0 0 1
AutG100126316MIR873 - 9 30288863 T C 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