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
AutG5579PRKCBrs405322 1 24115486 T A 0 1 0 0 0 0 1 Positive
rs4067228 - - - - 0 1 0 0 0 0 1
rs4067229 - - - - 0 1 0 0 0 0 1
AutG2569GABRR1rs407206 6 89894968 G A 0 1 0 0 0 0 1 Negative
AutG2049EPHB3rs4072650 3 184295828 C A 0 1 0 0 0 0 1 Negative
AutG54538ROBO4rs4078483 1 124766591 C C 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs4078843 1 27294463 G C 0 1 0 0 0 0 1 Negative
AutG4010LMX1Brs4083644 9 129461714 C C 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs409969 - - - - 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs411103 1 24230203 T A 0 1 0 0 0 0 1 Positive
AutG6530SLC6A2rs41153 1 55718520 A G 0 1 0 0 0 0 1
AutG4139MARK1rs4120669 - - - - 0 1 0 0 0 0 1 Positive
AutG2049EPHB3rs4132006 3 184281656 A C 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs414077 - - - - 0 1 0 0 0 0 1 Negative
AutG4915NTRK2rs4144550 9 87369613 A A 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs416768 - - - - 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs416951 1 24157570 A A 0 1 0 0 0 0 1 Positive
AutG4233METrs41736 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs41739 - - - - 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs420414 1 24142847 A A 0 1 0 0 0 0 1 Positive

Page Counts: 53/584  
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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