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
AutG1750DLX6rs6957108 - - - - 0 2 0 0 0 0 2 Positive
AutG4897NRCAMrs6958498 - - - - 0 2 0 0 0 0 2 Negative
AutG1749DLX5rs6960249 - - - - 0 2 0 0 0 0 2 Positive
AutG7461CYLN2rs6964387 - - - - 0 2 0 0 0 0 2 Negative
AutG627BDNFrs7103411 1 27700125 C C 0 2 0 0 0 0 2 Negative
AutG4233METrs714180 - - - - 0 2 0 0 0 0 2 Positive
AutG2558GABRA5rs7173260 1 27171944 G A 0 2 0 0 0 0 2 Negative
AutG4897NRCAMrs722519 - - - - 0 2 0 0 0 0 2 Negative
AutG100ADArs73598374 2 43280227 C A 0 2 0 0 0 0 2 Positive
AutG27185DISC1rs751229 - - - - 0 2 0 0 0 0 2 Positive
AutG4139MARK1rs7514431 - - - - 0 2 0 0 0 0 2 Positive
AutG57194ATP10Crs753899 1 25947642 T C 0 2 0 0 0 0 2 Negative
AutG2571GAD1rs7561581 2 171696472 T C 0 2 0 0 0 0 2 Positive
AutG5021OXTRrs7632287 3 8791446 G A 0 2 0 0 0 0 2 Positive
AutG2557GABRA4rs7660336 4 46929668 G C 0 2 0 0 0 0 2 Positive
AutG2557GABRA4rs7685553 4 46953497 T C 0 2 0 0 0 0 2 Positive
AutG2557GABRA4rs7694035 4 46985750 A A 0 2 0 0 0 0 2 Positive
AutG2571GAD1rs769407 2 171693708 G C 0 2 0 0 0 0 2 Positive
AutG1745DLX1rs788160 2 172946315 T G 0 2 0 0 0 0 2 Negative
AutG2562GABRB3rs878960 1 26928936 C A 0 2 0 0 0 0 2 Positive

Page Counts: 549/584  
549 First  Previous  548  549  550  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