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
AutG80700UBXN6 - 19 4446075 C T 0 0 1 0 0 0 1
AutG84717HDGFRP2 - 19 4475539 G R 0 0 1 0 0 0 1
AutG729359PLIN4 - 19 4510966 G A 0 0 1 0 0 0 1
AutG729359PLIN4 - 19 4512088 G A 0 0 1 0 0 0 1
AutG116844LRG1 - 19 4538513 G A 0 0 1 0 0 0 1
AutG29128UHRF1 - 19 4932922 C T 0 0 1 0 0 0 1
AutG23030KDM4B - 19 5110672 G A 0 0 1 0 0 0 1 Positive
AutG23030KDM4B - 19 5111518 C T 0 0 1 0 0 0 1
AutG23030KDM4B - 19 5135437 C T 0 0 1 0 0 0 1
AutG5802PTPRS - 19 5216793 C CA 0 0 1 0 0 0 1
AutG5802PTPRS - 19 5218803 G A 0 0 1 0 0 0 1
AutG5802PTPRS - 19 5218842 G A 0 0 1 0 0 0 1
AutG6294SAFB - 19 5657356 T Y 0 0 1 0 0 0 1
AutG9361LONP1 - 19 5707116 C A 0 0 1 0 0 0 1
AutG9361LONP1 - 19 5713148 C G 0 0 1 0 0 0 1
AutG828CAPS - 19 5914616 C T 0 0 1 0 0 0 1
AutG5990RFX2 - 19 6013032 C T 0 0 1 0 0 0 1
AutG5990RFX2 - 19 6044241 G A 0 0 1 0 0 0 1
AutG5623PSPN - 19 6375788 C T 0 0 1 0 0 0 1
AutG79230ZNF557 - 19 7083553 C A 0 0 1 0 0 0 1

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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