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
AutG64061TSPYL2 - X 53148528 C T 0 0 1 0 0 0 1
AutG23096IQSEC2 - X 53268427 C T 0 0 1 0 0 0 1 Positive
AutG23133PHF8 - X 54037669 G A 0 0 1 0 0 0 1
AutG90121TSR2 - X 54467212 T K 0 0 1 0 0 0 1
AutG54552GNL3L - X 54586960 C Y 0 0 1 0 0 0 1
AutG7216TRO - X 54949846 C T 0 0 1 0 0 0 1
AutG5207PFKFB1 - X 54978349 G A 0 0 1 0 0 0 1 Positive
AutG158880USP51 - X 55513637 G A 0 0 1 0 0 0 1 Positive
AutG169981SPIN3 - X 57131966 C T 0 0 1 0 0 0 1
AutGNONE - X 62284509 C T 0 0 1 0 0 0 1
AutG340554ZC3H12B - X 64708914 G R 0 0 1 0 0 0 1
AutG60401EDA2R - X 66741808 T C 0 0 1 0 0 0 1
AutG367AR - X 66943674 C T 0 0 1 0 0 0 1
AutG347516DGAT2L6 - X 69421748 C T 0 0 1 0 0 0 1 Positive
AutG9968MED12 - X 70349234 G A 0 0 1 0 0 0 1 Positive
AutG54413NLGN3 - X 70375069 C T 0 0 1 0 0 0 1 Positive
AutG54413NLGN3 - X 70389790 G A 0 0 1 0 0 0 1 Positive
AutG9203ZMYM3 - X 70470552 T C 0 0 1 0 0 0 1 Positive
AutG392490FLJ44635 - X 71385496 A G 0 0 1 0 0 0 1
AutG54821ERCC6L - X 71428206 G 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