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
AutG29760BLNK - 10 98031160 - - 0 0 0 0 1 0 1 Positive
AutG26148C10orf12 - 10 98741973 A G 0 0 0 0 1 0 1
AutGHOGA1 - 10 99361725 G A 0 0 0 0 1 0 1
AutG53942CNTN5 - 11 100168410 T A 0 0 0 0 1 0 1
AutG4317MMP8 - 11 102589250 C T 0 0 0 0 1 0 1
AutG79659DYNC2H1 - 11 103175330 A G 0 0 0 0 1 0 1
AutG3359HTR3A - 11 113852013 C T 0 0 0 0 1 0 1 Positive
AutG120406FAM55B - 11 114577559 G A 0 0 0 0 1 0 1
AutGNXPE2 - 11 114799197 G T 0 0 0 0 1 0 1
AutG8882ZNF259 - 11 116655126 A G 0 0 0 0 1 0 1
AutG23187PHLDB1 - 11 118518737 G A 0 0 0 0 1 0 1
AutG23650TRIM29 - 11 120008187 A G 0 0 0 0 1 0 1
AutG23365ARHGEF12 - 11 120291542 G A 0 0 0 0 1 0 1
AutG7007TECTA - 11 121028796 C T 0 0 0 0 1 0 1
AutG79827ASAM - 11 122953914 C G 0 0 0 0 1 0 1
AutG64221ROBO3 - 11 124740181 G A 0 0 0 0 1 0 1
AutG83480PUS3 - 11 125765528 G A 0 0 0 0 1 0 1
AutG6734SRPR - 11 126134982 C T 0 0 0 0 1 0 1 Positive
AutG84623KIRREL3 - 11 126305185 C A 0 0 0 0 1 0 1
AutG84623KIRREL3 - 11 126314888 G A 0 0 0 0 1 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