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
AutG3431SP110 - 2 231074661 G A 0 0 1 0 0 0 1
AutG80210ARMC9 - 2 232127057 C S 0 0 1 0 0 0 1
AutG129563DIS3L2 - 2 233207808 G A 0 0 1 0 0 0 1
AutG26058GIGYF2 - 2 233655745 G G/T 0 0 1 0 0 0 1
AutG26058GIGYF2 - 2 233675964 G A/G 0 0 1 0 0 0 1 Positive
AutG26058GIGYF2 - 2 233675982 C T 0 0 1 0 0 0 1
AutG26058GIGYF2 - 2 233704659 G A 0 0 1 0 0 0 1 Positive
AutG26058GIGYF2 - 2 233712061 C G 0 0 1 0 0 0 1 Positive
AutG8527DGKD - 2 234350581 C CG 0 0 1 0 0 0 1
AutG8527DGKD - 2 234356988 G A 0 0 1 0 0 0 1
AutG54657UGT1A4 - 2 234628270 G A 0 0 1 0 0 0 1
AutGUGT1A10,UGT1A8,U - 2 234676519 C T 0 0 1 0 0 0 1
AutG23677SH3BP4 - 2 235951884 T TTG 0 0 1 0 0 0 1
AutG116987AGAP1 - 2 236984962 G A 0 0 1 0 0 0 1
AutG1293COL6A3 - 2 238303503 T C 0 0 1 0 0 0 1 Positive
AutG51052PRLH - 2 238475709 G A 0 0 1 0 0 0 1 Positive
AutG9208LRRFIP1 - 2 238617225 G A 0 0 1 0 0 0 1
AutG9208LRRFIP1 - 2 238617256 G GA 0 0 1 0 0 0 1
AutG9208LRRFIP1 - 2 238671886 C T 0 0 1 0 0 0 1
AutG9208LRRFIP1 - 2 238671960 C T 0 0 1 0 0 0 1

Page Counts: 290/584  
290 First  Previous  289  290  291  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