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
AutG4233METrs13223756 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs13233763 - - - - 0 1 0 0 0 0 1 Negative
AutG1600DAB1rs1323815 1 58177003 C C 0 1 0 0 0 0 1 Positive
AutG5054SERPINE1rs13238709 - - - - 0 1 0 0 0 0 1 Positive
AutG4232MESTrs13245645 - - - - 0 1 0 0 0 0 1 Positive
AutG7534YWHAZrs13254653 8 101927695 C C 0 1 0 0 0 0 1 Positive
AutG4010LMX1Brs13285227 9 129413298 C C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs13321110 3 178239558 C C 0 1 0 0 0 0 1 Positive
-rs13337936 1 20627190 C C 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs13376101 - - - - 0 1 0 0 0 0 1 Positive
AutG5617PRLrs1341239 6 22304204 A G 0 1 0 0 0 0 1 Positive
AutG7100TLR5rs1341987 - - - - 0 1 0 0 0 0 1 Negative
AutG59345GNB4rs1344537 3 179163651 T A 0 1 0 0 0 0 1 Positive
AutG6530SLC6A2rs1345429 1 55722850 A A 0 1 0 0 0 0 1
AutG2020EN2rs1345514 - - - - 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs1346149 1 26918754 G C 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs1349197 2 182372151 G C 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs1352250 1 72397784 A A 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs1352416 3 173480707 G C 0 1 0 0 0 0 1 Positive
AutG3653IPWrs13526 1 25365030 C A 0 1 0 0 0 0 1 Negative

Page Counts: 16/584  
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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