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
AutG5617PRLrs1205961 6 22286012 A C 0 1 0 0 0 0 1 Positive
AutG4915NTRK2rs1211166 9 87285992 G A 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs12127574 - - - - 0 1 0 0 0 0 1 Positive
-rs12138509 - - - - 0 1 0 0 0 0 1 Negative
AutG123879DCUN1D3rs12149567 1 20874528 A A 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs12149686 1 7732063 G A 0 1 0 0 0 0 1 Negative
AutG2561GABRB2rs12187676 - - - - 0 1 0 0 0 0 1 Positive
AutG9481SLC25A27rs12192544 6 46620252 C C 0 1 0 0 0 0 1 Negative
AutG64746ACBD3rs1219663 - - - - 0 1 0 0 0 0 1 Negative
AutG5092PCBD1rs12218438 1 72646337 C C 0 1 0 0 0 0 1 Negative
AutG824CAPN2rs1222145 - - - - 0 1 0 0 0 0 1 Negative
AutG627BDNFrs12273363 1 27744859 T C 0 1 0 0 0 0 1 Negative
AutG8065CUL5rs12277368 1 107887274 T C 0 1 0 0 0 0 1 Negative
AutG4010LMX1Brs12336217 9 129399870 A A 0 1 0 0 0 0 1 Positive
AutG1408CRY2rs12364060 1 45889775 C C 0 1 0 0 0 0 1 Negative
AutG6667SP1rs12368491 1 53782959 G A 0 1 0 0 0 0 1 Negative
AutG5649RELNrs123713 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs123714 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs12375196 - - - - 0 1 0 0 0 0 1 Positive
AutG25782RAB3GAP2rs12404532 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 11/584  
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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