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
AutG81889FAHD1 - 16 1883253 C A 0 0 1 0 0 0 1
AutG81889FAHD1 - 16 1883254 C A 0 0 1 0 0 0 1
AutG6123RPL3L - 16 1997014 G A 0 0 1 0 0 0 1
AutG146310RNF151 - 16 2018652 G A 0 0 1 0 0 0 1
AutG10607TBL3 - 16 2025006 C G 0 0 1 0 0 0 1
AutG124056NOXO1 - 16 2031167 G A 0 0 1 0 0 0 1
AutG9351SLC9A3R2 - 16 2086460 C T 0 0 1 0 0 0 1 Positive
AutG4913NTHL1 - 16 2094778 C T 0 0 1 0 0 0 1
AutG7249TSC2 - 16 2105504 A G 0 0 1 0 0 0 1
AutG7249TSC2 - 16 2124222 G A/G 0 0 1 0 0 0 1 Positive
AutG7249TSC2 - 16 2131695 C T 0 0 1 0 0 0 1 Positive
AutG7249TSC2 - 16 2136269 - - 0 0 1 0 0 0 1
AutG7249TSC2 - 16 2136269 C Y 0 0 1 0 0 0 1
AutG7249TSC2 - 16 2138510 - T 0 0 1 0 0 0 1
AutG5310PKD1 - 16 2152577 C T 0 0 1 0 0 0 1
AutG5310PKD1 - 16 2160512 G A 0 0 1 0 0 0 1
AutG5310PKD1 - 16 2162839 T C 0 0 1 0 0 0 1
AutG57524CASKIN1 - 16 2235199 A C 0 0 1 0 0 0 1
AutG21ABCA3 - 16 2334337 - - 0 0 1 0 0 0 1
AutG23524SRRM2 - 16 2806450 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