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
AutG1788DNMT3A - 2 25466800 - - 0 0 1 0 0 0 1
AutG3797KIF3C - 2 26203250 T C 0 0 1 0 0 0 1 Positive
AutG3030HADHA - 2 26432717 C A 0 0 1 0 0 0 1 Positive
AutG165082GPR113 - 2 26536713 C T 0 0 1 0 0 0 1
AutG339778C2orf70 - 2 26798966 C T 0 0 1 0 0 0 1 Positive
AutG56896DPYSL5 - 2 27164818 G A 0 0 1 0 0 0 1
AutG54867TMEM214 - 2 27258861 A G 0 0 1 0 0 0 1
AutG790CAD - 2 27455388 T G 0 0 1 0 0 0 1
AutG79623GALNT14 - 2 31168706 C T 0 0 1 0 0 0 1
AutG6683SPAST - 2 32314636 C G 0 0 1 0 0 0 1 Positive
AutG58484NLRC4 - 2 32475483 T C 0 0 1 0 0 0 1 Positive
AutG57448BIRC6 - 2 32640862 C G 0 0 1 0 0 0 1
AutG57448BIRC6 - 2 32656133 C T 0 0 1 0 0 0 1
AutG55622TTC27 - 2 32983503 A G 0 0 1 0 0 0 1
AutG4052LTBP1 - 2 33572486 A C 0 0 1 0 0 0 1
AutG25940FAM98A - 2 33907513 G T 0 0 1 0 0 0 1
AutGNONE - 2 36040833 C T 0 0 1 0 0 0 1
AutG51232CRIM1 - 2 36668494 TGGGG TGGG 0 0 1 0 0 0 1
AutG6801STRN - 2 37121152 C T 0 0 1 0 0 0 1 Positive
AutG54497HEATR5B - 2 37299319 G A 0 0 1 0 0 0 1

Page Counts: 271/584  
271 First  Previous  270  271  272  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