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
AutGNME8 - 7 37889877 A AAAAAACG 0 0 1 0 0 0 1
AutG273AMPH - 7 38431556 - - 0 0 1 0 0 0 1
AutG5898RALA - 7 39726339 G A 0 0 1 0 0 0 1 Positive
AutG8621CDK13 - 7 40134546 T TGGCAGA 0 0 1 0 0 0 1
AutGMPLKIP - 7 40173984 G T 0 0 1 0 0 0 1
AutG2737GLI3 - 7 42005456 T G 0 0 1 0 0 0 1 Positive
AutG2737GLI3 - 7 42438426 A T 0 0 1 0 0 0 1
AutG55665URGCP - 7 43918279 G A 0 0 1 0 0 0 1
AutGURGCP,URGCP-MRPS - 7 43937886 G A 0 0 1 0 0 0 1
AutG28988DBNL - 7 44100380 C T 0 0 1 0 0 0 1
AutG816CAMK2B - 7 44259671 G A 0 0 1 0 0 0 1 Positive
AutG4967OGDH - 7 44734101 A G 0 0 1 0 0 0 1 Positive
AutG94239H2AFV - 7 44875212 G R 0 0 1 0 0 0 1
AutG64005MYO1G - 7 45004575 C T 0 0 1 0 0 0 1
AutG83605CCM2 - 7 45067319 C T 0 0 1 0 0 0 1
AutG136288C7orf57 - 7 48089488 G A 0 0 1 0 0 0 1
AutG136288C7orf57 - 7 48092480 C T 0 0 1 0 0 0 1
AutG7378UPP1 - 7 48147088 C T 0 0 1 0 0 0 1
AutG154664ABCA13 - 7 48287839 C T 0 0 1 0 0 0 1
AutG154664ABCA13 - 7 48318773 A G 0 0 1 0 0 0 1

Page Counts: 366/584  
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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