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
AutG480ATP1A4 - 1 160125943 C T 0 0 1 0 0 0 1 Positive
AutG25790CCDC19 - 1 159846398 - - 0 0 1 0 0 0 1
AutG343413FCRL6 - 1 159778750 G A 0 0 1 0 0 0 1
AutG325APCS - 1 159557753 C T 0 0 1 0 0 0 1
AutG441911OR10J3 - 1 159283723 C T 0 0 1 0 0 0 1
AutG149628PYHIN1 - 1 159038053 T C 0 0 1 0 0 0 1
AutG149628PYHIN1 - 1 158913694 C T 0 0 1 0 0 0 1
AutG149628PYHIN1 - 1 158906752 A G 0 0 1 0 0 0 1
AutG81442OR6N2 - 1 158746730 T C 0 0 1 0 0 0 1
AutG6708SPTA1 - 1 158585162 C T 0 0 1 0 0 0 1
AutG128368OR10Z1 - 1 158576351 C M 0 0 1 0 0 0 1
AutG128366OR6P1 - 1 158533157 - - 0 0 1 0 0 0 1
AutG909CD1A - 1 158226779 G A 0 0 1 0 0 0 1
AutG55243KIRREL - 1 158045967 G A 0 0 1 0 0 0 1
AutG2117ETV3 - 1 157094760 G C 0 0 1 0 0 0 1 Positive
AutG9826ARHGEF11 - 1 156928572 T C 0 0 1 0 0 0 1
AutG375033PEAR1 - 1 156883034 C T 0 0 1 0 0 0 1 Positive
AutG3645INSRR - 1 156813260 AG A 0 0 1 0 0 0 1
AutG128240APOA1BP - 1 156562184 G GC 0 0 1 0 0 0 1
AutG128239IQGAP3 - 1 156536205 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