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
AutG2494NR5A2 - 1 200017391 C T 0 0 2 0 0 0 2
AutG343450KCNT2 - 1 196395019 C G 0 0 2 0 0 0 2 Positive
AutG83872HMCN1 - 1 185985113 T C 0 0 2 0 0 0 2
AutG777CACNA1E - 1 181721285 C T 0 0 2 0 0 0 2
AutG163589TDRD5 - 1 179609178 G A 0 0 2 0 0 0 2
AutG919CD247 - 1 167410000 T C 0 0 2 0 0 0 2
AutG25790CCDC19 - 1 159846398 C T 0 0 2 0 0 0 2
AutG3608ILF2 - 1 153637720 G A 0 0 2 0 0 0 2
AutG23126POGZ - 1 151379469 G GGTAC 0 0 2 0 0 0 2
AutG51107APH1A - 1 150238957 G A 0 0 2 0 0 0 2
AutG8458TTF2 - 1 117632812 C A 0 0 2 0 0 0 2
AutG4343MOV10 - 1 113235478 G A 0 0 2 0 0 0 2
AutG6814STXBP3 - 1 109321932 A G 0 0 2 0 0 0 2
AutG10451VAV3 - 1 108138879 G C 0 0 2 0 0 0 2
AutG22854NTNG1 - 1 107867061 C Y 0 0 2 0 0 0 2
AutG22854NTNG1 - 1 107691283 A R 0 0 2 0 0 0 2
AutG148534TMEM56 - 1 95616924 A G 0 0 2 0 0 0 2
AutG343099CCDC18 - 1 93667486 G A 0 0 2 0 0 0 2 Positive
AutG84251SGIP1 - 1 67154953 G A 0 0 2 0 0 0 2 Positive
AutG57685CACHD1 - 1 65139072 T G 0 0 2 0 0 0 2

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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