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
AutG23586DDX58 - 9 32493940 C T 0 0 1 0 0 0 1
AutG138474TAF1L - 9 32629906 - - 0 0 1 0 0 0 1
AutG5646PRSS3 - 9 33797928 G GCT 0 0 1 0 0 0 1
AutG55833UBAP2 - 9 33948584 G A 0 0 1 0 0 0 1 Positive
AutG55833UBAP2 - 9 33989058 CTCTTT CT 0 0 1 0 0 0 1
AutG347240KIF24 - 9 34259682 C T 0 0 1 0 0 0 1 Positive
AutGFAM219A - 9 34401083 T A 0 0 1 0 0 0 1 Positive
AutG259308C9orf144B - 9 34728650 C G 0 0 1 0 0 0 1
AutG7415VCP - 9 35061615 T G 0 0 1 0 0 0 1 Positive
AutG30968STOML2 - 9 35101724 G A 0 0 1 0 0 0 1
AutG10497UNC13B - 9 35231139 C G 0 0 1 0 0 0 1
AutG10497UNC13B - 9 35382420 G A 0 0 1 0 0 0 1
AutG9853RUSC2 - 9 35559246 T G 0 0 1 0 0 0 1 Positive
AutG971CD72 - 9 35611807 C Y 0 0 1 0 0 0 1
AutG881CCIN - 9 36170717 AG A 0 0 1 0 0 0 1
AutG881CCIN - 9 36170719 G C 0 0 1 0 0 0 1 Positive
AutG10020GNE - 9 36246115 G A 0 0 1 0 0 0 1 Positive
AutG152006RNF38 - 9 36375929 A G 0 0 1 0 0 0 1
AutG5079PAX5 - 9 37020767 A AC 0 0 1 0 0 0 1
AutG5079PAX5 - 9 37020768 A AC 0 0 1 0 0 0 1

Page Counts: 388/584  
388 First  Previous  387  388  389  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