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
AutG342372PKD1L3 - 16 71986760 ATAAG A 0 0 1 0 0 0 1
AutG463ZFHX3 - 16 72845532 - - 0 0 1 0 0 0 1
AutG463ZFHX3 - 16 72991675 G A 0 0 1 0 0 0 1
AutG197259MLKL - 16 74709283 C G 0 0 1 0 0 0 1
AutG79726WDR59 - 16 74927685 C T 0 0 1 0 0 0 1 Positive
AutG23563CHST5 - 16 75563974 - - 0 0 1 0 0 0 1
AutG54386TERF2IP - 16 76191098 C A 0 0 1 0 0 0 1
AutG170692ADAMTS18 - 16 77325261 G GTTTC 0 0 1 0 0 0 1
AutG170692ADAMTS18 - 16 77327129 C T 0 0 1 0 0 0 1
AutG51741WWOX - 16 79149664 A C 0 0 1 0 0 0 1
AutG51741WWOX - 16 79245541 G A 0 0 1 0 0 0 1
AutG51741WWOX - 16 79622779 C T 0 0 1 0 0 0 1
AutG124359CDYL2 - 16 80667073 G A 0 0 1 0 0 0 1
AutG55839CENPN - 16 81056390 C T 0 0 1 0 0 0 1
AutG93517SDR42E1 - 16 82033419 C A 0 0 1 0 0 0 1
AutG3294HSD17B2 - 16 82101873 G C 0 0 1 0 0 0 1 Positive
AutG146167SLC38A8 - 16 84070481 C A 0 0 1 0 0 0 1 Positive
AutG161931ADAD2 - 16 84229845 C T 0 0 1 0 0 0 1
AutG57707KIAA1609 - 16 84514140 G A 0 0 1 0 0 0 1
AutG79786KLHL36 - 16 84695527 C T 0 0 1 0 0 0 1 Positive

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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