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
AutG367ARrs6253 1 28115941 C A 0 1 0 0 0 0 1 Positive
AutG627BDNFrs6265 1 27679916 C A 0 1 0 0 0 0 1 Positive
AutG3351HTR1Brs6296 6 78172260 C C 0 1 0 0 0 0 1 Positive
AutG3356HTR2Ars6313 1 47469940 G C 0 1 0 0 0 0 1 Negative
AutG3356HTR2Ars6314 1 47409034 G C 0 1 0 0 0 0 1 Negative
AutG3358HTR2Crs6318 X 113965735 G C 0 1 0 0 0 0 1 Negative
AutG4128MAOArs6323 X 43591036 G G 0 1 0 0 0 0 1 Positive
AutG4914NTRK1rs6337 - - - - 0 1 0 0 0 0 1 Positive
AutG4914NTRK1rs6339 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs634500 - - - - 0 1 0 0 0 0 1 Positive
AutG6532SLC6A4rs6354 1 28549898 G A 0 1 0 0 0 0 1
AutG6263RYR3rs640152 1 33884488 A A 0 1 0 0 0 0 1 Negative
AutG221078NSUN6rs6482516 1 18839350 A A 0 1 0 0 0 0 1 Positive
AutG4908NTF3rs6489630 1 5604624 T C 0 1 0 0 0 0 1 Positive
AutG139411PTCHD1rs6526275 X 23389709 A A 0 1 0 0 0 0 1 Negative
AutG10458BAIAP2rs6565531 1 79023380 G A 0 1 0 0 0 0 1 Positive
AutG53942CNTN5rs6590446 1 99811892 C C 0 1 0 0 0 0 1 Positive
AutG53942CNTN5rs6590473 1 99852155 T C 0 1 0 0 0 0 1 Positive
AutG5444PON1rs662 - - - - 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs6627921 X 23406394 C C 0 1 0 0 0 0 1 Negative

Page Counts: 104/584  
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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