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
rs13176113 5 25900440 G A 1 0 0 0 0 0 1 Positive
rs13187934 5 25902368 C C 1 0 0 0 0 0 1 Positive
rs13211684 6 51175486 T C 1 0 0 0 0 0 1 Positive
AutG1357CPA1rs13226219 - - - - 1 0 0 0 0 0 1 Positive
AutG23026MYO16rs1328244 1 110083898 G C 1 0 0 0 0 0 1 Positive
AutG23026MYO16rs1328250 1 110058631 T C 1 0 0 0 0 0 1 Positive
rs1346536 5 25915652 A A 1 0 0 0 0 0 1 Positive
AutG2272FHITrs1353545 - - - - 1 0 0 0 0 0 1 Positive
rs1366465 5 25870090 T C 1 0 0 0 0 0 1 Positive
rs1427395 2 153733922 T A 1 0 0 0 0 0 1 Positive
AutG114880OSBPL6rs1434087 2 179203797 G A 1 0 0 0 0 0 1 Positive
AutG83943IMMP2Lrs1464895 - - - - 1 0 0 0 0 0 1 Positive
AutG83943IMMP2Lrs1528039 - - - - 1 0 0 0 0 0 1 Positive
AutG55359STYK1rs16922945 1 10819146 T C 1 0 0 0 0 0 1 Positive
AutG6014RIT2rs16976358 1 40191571 T C 1 0 0 0 0 0 1 Positive
AutG152330CNTN4rs17008493 3 2198106 T A 1 0 0 0 0 0 1 Positive
rs17482975 5 25901608 C C 1 0 0 0 0 0 1 Positive
AutG4920ROR2rs17586213 9 94535010 T C 1 0 0 0 0 0 1 Positive
AutG6856SYPL1rs176481 - - - - 1 0 0 0 0 0 1 Positive
AutG2103ESRRBrs17783432 1 77071408 G A 1 0 0 0 0 0 1 Positive

Page Counts: 129/584  
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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