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
AutGLINC01065 - 13 53837492 C T 0 0 0 0 1 0 1
AutGLINC00376 - 13 64221351 A G 0 0 0 0 1 0 1
AutG57626KLHL1 - 13 70370894 T C 0 0 0 0 1 0 1
AutG6315ATXN8OS - 13 71533166 A T 0 0 0 0 1 0 1
AutG6315ATXN8OS - 13 71533918 G T 0 0 0 0 1 0 1
AutG6315ATXN8OS - 13 71533928 T C 0 0 0 0 1 0 1
AutGLINC00348 - 13 71724023 - T 0 0 0 0 1 0 1
AutG1602DACH1 - 13 72212947 C T 0 0 0 0 1 0 1
AutG1602DACH1 - 13 72519211 A G 0 0 0 0 1 0 1
AutG1602DACH1 - 13 73085482 C A 0 0 0 0 1 0 1
AutG1602DACH1 - 13 73115466 C A 0 0 0 0 1 0 1
AutG64062RBM26 - 13 79916801 C G 0 0 0 0 1 0 1
AutG26050SLITRK5 - 13 88329338 G A 0 0 0 0 1 0 1
AutGLINC00433 - 13 89833401 - T 0 0 0 0 1 0 1
AutG2262GPC5 - 13 92972732 T C 0 0 0 0 1 0 1
AutG266722HS6ST3 - 13 97212091 C A 0 0 0 0 1 0 1
AutG266722HS6ST3 - 13 97263142 C G 0 0 0 0 1 0 1
AutG328APEX1 - 14 20924167 G C 0 0 0 0 1 0 1
AutG57680CHD8 - 14 21854250 C C/T 0 0 0 0 1 0 1 Positive
AutG57680CHD8 - 14 21854308 G A/G 0 0 0 0 1 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