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
AutG55127HEATR1 - 1 236759211 TC T 0 0 1 0 0 0 1
AutG54627KIAA1383 - 1 232950886 A C 0 0 1 0 0 0 1
AutG27185DISC1 - 1 231829616 C T 0 0 1 0 0 0 1
AutG27185DISC1 - 1 231828151 - - 0 0 1 0 0 0 1
AutG100303453TSNAX-DISC1 - 1 231774213 T C 0 0 1 0 0 0 1
AutG9816URB2 - 1 230106543 A T 0 0 1 0 0 0 1
AutG55746NUP133 - 1 229602434 T C 0 0 1 0 0 0 1
AutG55746NUP133 - 1 229596508 T Y 0 0 1 0 0 0 1
AutG51127TRIM17 - 1 228598833 C T 0 0 1 0 0 0 1
AutG84033OBSCN - 1 228509724 G A 0 0 1 0 0 0 1
AutG84033OBSCN - 1 228476583 - - 0 0 1 0 0 0 1
AutG84033OBSCN - 1 228447223 A G 0 0 1 0 0 0 1
AutG8476CDC42BPA - 1 227307548 T G 0 0 1 0 0 0 1 Positive
AutG2052EPHX1 - 1 226026444 G A 0 0 1 0 0 0 1 Positive
AutG149111CNIH3 - 1 224957400 G A 0 0 1 0 0 0 1
AutG149111CNIH3 - 1 224957399 G A 0 0 1 0 0 0 1
AutG80232WDR26 - 1 224599157 G C 0 0 1 0 0 0 1
AutG388743CAPN8 - 1 223853218 AC A 0 0 1 0 0 0 1
AutG84976DISP1 - 1 223177742 G A 0 0 1 0 0 0 1
AutG84976DISP1 - 1 223176218 C T 0 0 1 0 0 0 1

Page Counts: 183/584  
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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