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
AutG5663PSEN1 - 14 73685855 C Y 0 0 1 0 0 0 1
AutG89932PAPLN - 14 73729315 G A 0 0 1 0 0 0 1
AutG8650NUMB - 14 73743597 G A 0 0 1 0 0 0 1
AutG8650NUMB - 14 73928739 G A 0 0 1 0 0 0 1
AutG8650NUMB - 14 73930159 T A 0 0 1 0 0 0 1
AutGAK055876 - 14 73930294 G A 0 0 1 0 0 0 1
AutG57862ZNF410 - 14 74353493 G C 0 0 1 0 0 0 1
AutG4329ALDH6A1 - 14 74533566 C G 0 0 1 0 0 0 1 Positive
AutG338917VSX2 - 14 74711878 A G 0 0 1 0 0 0 1 Positive
AutG5826ABCD4 - 14 74759259 C T 0 0 1 0 0 0 1
AutG9870KIAA0317 - 14 75142520 G A 0 0 1 0 0 0 1
AutGAREL1 - 14 75151253 G - 0 0 1 0 0 0 1
AutG56252YLPM1 - 14 75266198 C T 0 0 1 0 0 0 1 Positive
AutG56252YLPM1 - 14 75278299 AGCG A 0 0 1 0 0 0 1
AutG2103ESRRB - 14 76948978 G A 0 0 1 0 0 0 1
AutGIRF2BPL - 14 77492033 GT G 0 0 1 0 0 0 1
AutGIRF2BPL - 14 77494046 G S 0 0 1 0 0 0 1
AutG22938SNW1 - 14 78227470 TCTTCTTCCG T 0 0 1 0 0 0 1
AutG9369NRXN3 - 14 80158587 G A 0 0 1 0 0 0 1 Positive
AutGLOC100628307 - 14 80914911 C T 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