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
AutG2567GABRG3rs7494878 1 27283143 G A 0 1 0 0 0 0 1 Negative
AutG116285ACSM1rs7498905 1 20694067 G A 0 1 0 0 0 0 1 Negative
-rs7500507 1 23234293 G A 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs7501006 1 7620546 C C 0 1 0 0 0 0 1 Negative
AutG8476CDC42BPArs7521639 - - - - 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs7539344 - - - - 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs754661 1 26934277 G A 0 1 0 0 0 0 1 Positive
AutG9732KIAA0716rs757219 - - - - 0 1 0 0 0 0 1 Negative
AutG8604SLC25A12rs7573003 2 172741415 T A 0 1 0 0 0 0 1 Negative
AutG112479ERI2rs757304 1 20826165 G A 0 1 0 0 0 0 1 Negative
AutG8913CACNA1Grs757415 1 48664629 C C 0 1 0 0 0 0 1 Positive
AutG8604SLC25A12rs7586207 2 172671094 A A 0 1 0 0 0 0 1 Negative
AutG3655ITGA6rs7587375 2 173315752 A A 0 1 0 0 0 0 1 Negative
AutG3685ITGAVrs7589470 2 187522406 G A 0 1 0 0 0 0 1 Negative
AutG65061ALS2CR7rs759419 2 202766647 G C 0 1 0 0 0 0 1 Negative
AutG3685ITGAVrs7596996 2 187494427 G A 0 1 0 0 0 0 1 Negative
AutG2739GLO1rs7604 6 38643796 C A 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs7611588 3 178457746 C A 0 1 0 0 0 0 1 Positive
AutG59345GNB4rs7618251 3 179174789 C C 0 1 0 0 0 0 1 Positive
AutG59345GNB4rs7618348 3 179144739 C C 0 1 0 0 0 0 1 Positive

Page Counts: 71/584  
71 First  Previous  70  71  72  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