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
AutG100528064NEDD8-MDP1 - 14 24683304 C A 0 0 0 0 1 0 1
AutG7051TGM1 - 14 24724663 C T 0 0 0 0 1 0 1
AutGLINC00645 - 14 29044359 C G 0 0 0 0 1 0 1
AutG1690COCH - 14 31346846 C T 0 0 0 0 1 0 1 Positive
AutG9472AKAP6 - 14 33197222 C T 0 0 0 0 1 0 1
AutG9472AKAP6 - 14 33231252 C A 0 0 0 0 1 0 1
AutG64067NPAS3 - 14 33417108 G - 0 0 0 0 1 0 1
AutG161198CLEC14A - 14 38724806 G A 0 0 0 0 1 0 1
AutG6655SOS2 - 14 50655307 C T 0 0 0 0 1 0 1
AutG6655SOS2 - 14 50655357 G C 0 0 0 0 1 0 1
AutG6655SOS2 - 14 50655380 C G 0 0 0 0 1 0 1
AutG10668CGRRF1 - 14 54997751 C T 0 0 0 0 1 0 1
AutG3091HIF1A - 14 62204808 C T 0 0 0 0 1 0 1
AutG23224SYNE2 - 14 64676751 C T 0 0 0 0 1 0 1
AutG4149MAX - 14 65544567 C T 0 0 0 0 1 0 1
AutG51109RDH11 - 14 68159269 C T 0 0 0 0 1 0 1
AutG6547SLC8A3 - 14 70633411 C T 0 0 0 0 1 0 1
AutG4053LTBP2 - 14 74976452 C T 0 0 0 0 1 0 1
AutG101928559LINC01467 - 14 82072544 T C 0 0 0 0 1 0 1
AutG101928559LINC01467 - 14 82129218 C A 0 0 0 0 1 0 1

Page Counts: 463/584  
463 First  Previous  462  463  464  Next  Last

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