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
AutG80014WWC2 - 4 184182236 ACTTC A 0 0 1 0 0 0 1
AutG133121ENPP6 - 4 185012498 C T 0 0 1 0 0 0 1
AutG3660IRF2 - 4 185320175 C T 0 0 1 0 0 0 1
AutGPRIMPOL - 4 185587102 G A 0 0 1 0 0 0 1
AutG55325UFSP2 - 4 186336914 A C 0 0 1 0 0 0 1
AutG7098TLR3 - 4 186997803 TGGGGGGG TGGGGGG 0 0 1 0 0 0 1
AutG2160F11 - 4 187201555 GGTTATGCAGACACCCTT G 0 0 1 0 0 0 1
AutG285441LOC285441 - 4 187214768 G A 0 0 1 0 0 0 1
AutG2195FAT1 - 4 187517848 G A 0 0 1 0 0 0 1
AutG2195FAT1 - 4 187549328 A T 0 0 1 0 0 0 1 Positive
AutG10016PDCD6 - 5 306768 G A 0 0 1 0 0 0 1 Positive
AutG57491AHRR - 5 422895 - - 0 0 1 0 0 0 1 Positive
AutG116349C5orf55 - 5 442755 G T 0 0 1 0 0 0 1
AutG7015TERT - 5 1264586 C T 0 0 1 0 0 0 1
AutG50805IRX4 - 5 2258056 T G 0 0 1 0 0 0 1
AutG50805IRX4 - 5 2258057 C T 0 0 1 0 0 0 1
AutGICE1 - 5 5447859 GAAAAA GAAAAAA 0 0 1 0 0 0 1
AutG23379KIAA0947 - 5 5457449 A C 0 0 1 0 0 0 1
AutG23379KIAA0947 - 5 5796382 T A 0 0 1 0 0 0 1
AutG23379KIAA0947 - 5 6150562 T C 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