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
AutG11093ADAMTS13 - 9 136319589 G A 0 0 0 0 1 0 1
AutG402381SOHLH1 - 9 138586263 G T 0 0 0 0 1 0 1
AutG286256LCN12 - 9 139849847 G C 0 0 0 0 1 0 1
AutG27158NDOR1 - 9 140107044 T C 0 0 0 0 1 0 1
AutGCCDC171 - 9 16064774 T C 0 0 0 0 1 0 1
AutGCCDC171 - 9 16195751 C G 0 0 0 0 1 0 1
AutG100129385C9orf92 - 9 16286140 A T 0 0 0 0 1 0 1
AutG92949ADAMTSL1 - 9 18496766 A C 0 0 0 0 1 0 1
AutG92949ADAMTSL1 - 9 18496770 G C 0 0 0 0 1 0 1
AutG6595SMARCA2 - 9 2050946 T C 0 0 0 0 1 0 1
AutG81704DOCK8 - 9 215014 C C/T 0 0 0 0 1 0 1 Positive
AutG1993ELAVL2 - 9 24260245 C A 0 0 0 0 1 0 1
AutG1993ELAVL2 - 9 24260340 A G 0 0 0 0 1 0 1
AutG81704DOCK8 - 9 286635 G C/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 304594 C C/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 311973 A A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 312134 G A 0 0 0 0 1 0 1
AutG81704DOCK8 - 9 317062 G A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 317064 C A/C 0 0 0 0 1 0 1 Positive
AutG10210TOPORS - 9 32542278 T C 0 0 0 0 1 0 1

Page Counts: 523/584  
523 First  Previous  522  523  524  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