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
AutG4010LMX1Brs12551234 9 129417809 G C 0 1 0 0 0 0 1 Positive
AutG4010LMX1Brs12555176 9 129414303 G G 0 1 0 0 0 0 1 Positive
AutG4010LMX1Brs12555734 9 129411242 C A 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs12568419 - - - - 0 1 0 0 0 0 1 Positive
AutG79838TMC5rs12597885 1 19444980 G C 0 1 0 0 0 0 1 Negative
AutG8913CACNA1Grs12603112 1 48666349 A A 0 1 0 0 0 0 1 Positive
AutG3690ITGB3rs12603582 - - - - 0 1 0 0 0 0 1
AutG773CACNA1Ars12609735 1 13588516 T C 0 1 0 0 0 0 1
AutG27347STK39rs12616582 2 169026829 T A 0 1 0 0 0 0 1 Positive
AutG3685ITGAVrs12620821 2 187541318 G A 0 1 0 0 0 0 1 Negative
AutG59345GNB4rs12634184 3 179124814 G G 0 1 0 0 0 0 1 Positive
AutG4698NDUFA5rs12666974 - - - - 0 1 0 0 0 0 1 Negative
AutG8604SLC25A12rs12692976 2 172684403 C A 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs1269620 - - - - 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs1269621 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs1269629 - - - - 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs1269634 - - - - 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs1269642 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs1269655 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs1269688 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 13/584  
13 First  Previous  12  13  14  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