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
AutG259232NALCN - 13 101795438 T G 0 0 1 0 0 0 1 Positive
AutG85416ZIC5 - 13 100623117 G T 0 0 1 0 0 0 1
AutG9375TM9SF2 - 13 100207823 A G 0 0 1 0 0 0 1
AutG55757UGGT2 - 13 96536926 C T 0 0 1 0 0 0 1 Positive
AutGNONE - 13 90862384 T C 0 0 1 0 0 0 1
AutG26050SLITRK5 - 13 88327810 A G 0 0 1 0 0 0 1 Positive
AutG10253SPRY2 - 13 82415375 C T 0 0 1 0 0 0 1
AutG10253SPRY2 - 13 80911548 G A 0 0 1 0 0 0 1
AutG64062RBM26 - 13 79979891 T C 0 0 1 0 0 0 1
AutG23077MYCBP2 - 13 77831901 C T 0 0 1 0 0 0 1
AutG23077MYCBP2 - 13 77760058 G C 0 0 1 0 0 0 1
AutG4008LMO7 - 13 77317908 A G 0 0 1 0 0 0 1
AutG4008LMO7 - 13 76393648 G A 0 0 1 0 0 0 1
AutG7347UCHL3 - 13 76140825 T A 0 0 1 0 0 0 1
AutG9882TBC1D4 - 13 75930292 G A 0 0 1 0 0 0 1
AutG10464PIBF1 - 13 73429507 G C 0 0 1 0 0 0 1
AutG22894DIS3 - 13 73346895 T C 0 0 1 0 0 0 1 Positive
AutG22894DIS3 - 13 73344237 G A 0 0 1 0 0 0 1
AutG6315ATXN8OS - 13 71205120 T C 0 0 1 0 0 0 1
AutG283491OR7E156P - 13 65747083 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