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
AutG127069OR2T10 - 1 248756275 G T 0 0 1 0 0 0 1
AutG127062OR2M3 - 1 248397148 G A 0 0 1 0 0 0 1
AutG127059OR2M5 - 1 248309147 G C 0 0 1 0 0 0 1
AutG391189OR11L1 - 1 248005027 G S 0 0 1 0 0 0 1
AutG114548NLRP3 - 1 247582253 G A 0 0 1 0 0 0 1
AutG25909AHCTF1 - 1 247014152 T C 0 0 1 0 0 0 1
AutG163882CNST - 1 246810623 C T 0 0 1 0 0 0 1 Positive
AutG163882CNST - 1 246754937 G R 0 0 1 0 0 0 1
AutG51029PPPDE1 - 1 244816617 T TG 0 0 1 0 0 0 1
AutG159ADSS - 1 244587309 C T 0 0 1 0 0 0 1 Positive
AutG159ADSS - 1 244583599 C A 0 0 1 0 0 0 1
AutG10472ZNF238 - 1 244218501 C T 0 0 1 0 0 0 1
AutG200150PLD5 - 1 242383342 T C 0 0 1 0 0 0 1
AutG9156EXO1 - 1 242015681 T G 0 0 1 0 0 0 1
AutG1122CHML - 1 241798420 T A 0 0 1 0 0 0 1 Positive
AutGKMO,OPN3 - 1 241757651 T C 0 0 1 0 0 0 1
AutG1131CHRM3 - 1 240072255 A G 0 0 1 0 0 0 1
AutG1131CHRM3 - 1 240072174 A T 0 0 1 0 0 0 1 Positive
AutG6262RYR2 - 1 237870440 C A 0 0 1 0 0 0 1 Positive
AutG55127HEATR1 - 1 236759213 C - 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