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
AutG4233METrs35776110 - - - - 0 1 0 0 0 0 1 Positive
AutG6530SLC6A2rs36020 1 55713088 C A 0 1 0 0 0 0 1
AutG6530SLC6A2rs36021 1 55711950 T A 0 1 0 0 0 0 1
AutG3356HTR2Ars36213156 1 47471798 C C 0 1 0 0 0 0 1 Negative
AutG5649RELNrs362710 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs362719 - - - - 0 1 0 0 0 0 1 Negative
AutG5649RELNrs362726 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs362746 - - - - 0 1 0 0 0 0 1 Positive
-rs365798 - - - - 0 1 0 0 0 0 1 Negative
-rs366414 - - - - 0 1 0 0 0 0 1 Negative
AutG23191CYFIP1rs3693 1 23004893 A A 0 1 0 0 0 0 1
AutG6531SLC6A3 rs37020 5 1418374 A G 0 1 0 0 0 0 1 Negative
AutG3707ITPKBrs3729552 - - - - 0 1 0 0 0 0 1 Negative
AutG7472WNT2rs3729629 - - - - 0 1 0 0 0 0 1 Positive
AutG5290PIK3CArs3729680 - - - - 0 1 0 0 0 0 1 Negative
AutG5290PIK3CArs3729692 3 178947325 A A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs3729908 1 24231248 C C 0 1 0 0 0 0 1 Positive
AutG2744GLSrs3732211 2 191818323 A C 0 1 0 0 0 0 1 Negative
AutG952CD38rs3733593 4 15854725 G C 0 1 0 0 0 0 1 Negative
AutG6492SIM1rs3734354 6 100868779 G A 0 1 0 0 0 0 1 Negative

Page Counts: 46/584  
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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