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
AutG9903KLHL21rs201171 1 6651093 G C 1 0 0 0 0 0 1 Positive
AutG83943IMMP2Lrs2030781 - - - - 1 0 0 0 0 0 1 Negative
AutG1358CPA2rs2030974 - - - - 1 0 0 0 0 0 1 Negative
rs2082804 8 64160886 G A 1 0 0 0 0 0 1 Positive
AutG23224SYNE2rs2150291 1 64331423 T C 1 0 0 0 0 0 1 Positive
rs2173281 - - - - 1 0 0 0 0 0 1
AutG6561SLC13A1rs2204290 - - - - 1 0 0 0 0 0 1 Negative
AutG106481270RNU6-290Prs2207189 - - - - 1 0 0 0 0 0 1 Positive
AutG10237SLC35B1rs2233667 - - - - 1 0 0 0 0 0 1 Positive
AutG3720JARID2rs2237126 6 15481103 C A 1 0 0 0 0 0 1 Positive
rs2279977 3 3414586 A A 1 0 0 0 0 0 1 Positive
rs2317222 6 833579 A A 1 0 0 0 0 0 1 Positive
AutG23087TRIM35rs2322600 8 27139408 G C 1 0 0 0 0 0 1 Positive
AutG2185PTK2Brs2322606 8 27186923 A A 1 0 0 0 0 0 1 Positive
AutG23548TTC33rs2329353 5 40748268 G A 1 0 0 0 0 0 1 Negative
AutG54556ING3rs2525720 - - - - 1 0 0 0 0 0 1 Negative
AutG2006ELNrs2528795 - - - - 1 0 0 0 0 0 1 Positive
AutG55689YEATS2rs263025 3 183527618 T A 1 0 0 0 0 0 1 Positive
AutG55689YEATS2rs263030 3 183525121 A C 1 0 0 0 0 0 1 Positive
AutG55689YEATS2rs263035 3 183523657 A C 1 0 0 0 0 0 1 Positive

Page Counts: 118/584  
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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