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
AutG27094KCNMB3rs1183319 3 178969107 G A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs11865731 1 24030162 A A 0 1 0 0 0 0 1 Positive
AutG4915NTRK2rs1187321 9 87283031 T A 0 1 0 0 0 0 1 Positive
AutG4915NTRK2rs1187352 9 87293457 T A 0 1 0 0 0 0 1 Positive
AutG151126ZNF385Brs11885327 2 180568073 C C 0 1 0 0 0 0 1 Positive
AutG1857DVL3rs11919795 3 183890868 A A 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs11924523 3 178417035 G C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs11924694 3 178502029 C C 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs1193032 - - - - 0 1 0 0 0 0 1 Positive
AutG5307PITX1rs11959298 - - - - 0 1 0 0 0 0 1 Positive
-rs12022755 - - - - 0 1 0 0 0 0 1 Negative
AutG1600DAB1rs12023109 1 58482943 T G 0 1 0 0 0 0 1 Positive
AutG25782RAB3GAP2rs12026681 - - - - 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs1202773 1 58404623 G A 0 1 0 0 0 0 1 Positive
-rs12030540 - - - - 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs12034388 - - - - 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs12035887 1 57468791 G G 0 1 0 0 0 0 1 Positive
AutG25782RAB3GAP2rs12035921 - - - - 0 1 0 0 0 0 1 Positive
-rs12043807 - - - - 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs12046244 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 10/584  
10 First  Previous  9  10  11  Next  Last

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