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
AutG3931LCAT - 16 67973973 C G 0 0 1 0 0 0 1 Positive
AutG64174DPEP2 - 16 68026861 G A 0 0 1 0 0 0 1
AutGDUS2 - 16 68100248 G A 0 0 1 0 0 0 1
AutG80004ESRP2 - 16 68267732 GA G 0 0 1 0 0 0 1
AutG80004ESRP2 - 16 68267733 AAT A 0 0 1 0 0 0 1
AutG80004ESRP2 - 16 68267734 AT A 0 0 1 0 0 0 1
AutG54496PRMT7 - 16 68389650 A G 0 0 1 0 0 0 1
AutG1001CDH3 - 16 68721498 C G 0 0 1 0 0 0 1
AutG3038HAS3 - 16 69148665 G A 0 0 1 0 0 0 1
AutG7014TERF2 - 16 69401013 G C 0 0 1 0 0 0 1
AutG7014TERF2 - 16 69404384 A G 0 0 1 0 0 0 1
AutG80777CYB5B - 16 69496335 G A 0 0 1 0 0 0 1
AutG11060WWP2 - 16 69922119 C T 0 0 1 0 0 0 1
AutG11060WWP2 - 16 69967055 T C 0 0 1 0 0 0 1
AutG16AARS - 16 70316681 C T 0 0 1 0 0 0 1
AutG91862MARVELD3 - 16 71668525 C G 0 0 1 0 0 0 1
AutG164AP1G1 - 16 71780536 C T 0 0 1 0 0 0 1 Positive
AutG55565ZNF821 - 16 71894143 C T 0 0 1 0 0 0 1
AutG342372PKD1L3 - 16 71965113 G A 0 0 1 0 0 0 1
AutG342372PKD1L3 - 16 71978060 C Y 0 0 1 0 0 0 1

Page Counts: 231/584  
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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