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
AutG23524SRRM2 - 16 2813215 C T 0 0 1 0 0 0 1
AutG23524SRRM2 - 16 2813308 CAAAG C 0 0 1 0 0 0 1
AutG23524SRRM2 - 16 2814953 G A 0 0 1 0 0 0 1 Positive
AutG23524SRRM2 - 16 2815062 C Y 0 0 1 0 0 0 1
AutG23524SRRM2 - 16 2815676 C A 0 0 1 0 0 0 1
AutG23524SRRM2 - 16 2817038 C G 0 0 1 0 0 0 1 Positive
AutG10942PRSS21 - 16 2871093 G A 0 0 1 0 0 0 1
AutG124222PAQR4 - 16 3021892 C Y 0 0 1 0 0 0 1
AutG79228THOC6 - 16 3077533 GAGGCAGGGGTGT G 0 0 1 0 0 0 1
AutG64386MMP25 - 16 3100426 G A 0 0 1 0 0 0 1
AutG7760ZNF213 - 16 3190740 C S 0 0 1 0 0 0 1
AutG4992OR1F1 - 16 3255016 C T 0 0 1 0 0 0 1
AutG84464SLX4 - 16 3640983 C G 0 0 1 0 0 0 1 Positive
AutG1387CREBBP - 16 3786149 T C 0 0 1 0 0 0 1
AutG7023TFAP4 - 16 4312614 G A 0 0 1 0 0 0 1 Positive
AutG9093DNAJA3 - 16 4493080 C G 0 0 1 0 0 0 1
AutG23295MGRN1 - 16 4702029 CAA C 0 0 1 0 0 0 1
AutG84309NUDT16L1 - 16 4744147 G A 0 0 1 0 0 0 1
AutGSMIM22 - 16 4846043 CTGGAAGGTGAGCCCT C 0 0 1 0 0 0 1
AutG29855UBN1 - 16 4925419 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