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
AutG79718TBL1XR1 - 3 176765107 A R 0 0 2 0 0 0 2
AutG2580GAK - 4 898481 G A 0 0 2 0 0 0 2
AutG7468WHSC1 - 4 1920309 GC G 0 0 2 0 0 0 2
AutG26234FBXL5 - 4 15640246 T G 0 0 2 0 0 0 2
AutG55728N4BP2 - 4 40104472 C G 0 0 2 0 0 0 2
AutG5978REST - 4 57798002 C G 0 0 2 0 0 0 2 Positive
AutG2798GNRHR - 4 68619768 G A 0 0 2 0 0 0 2 Positive
AutG285513GPRIN3 - 4 90170534 C G 0 0 2 0 0 0 2
AutG287ANK2 - 4 114264189 C G 0 0 2 0 0 0 2 Positive
AutG57721METTL14 - 4 119626841 A G 0 0 2 0 0 0 2 Positive
AutG27152INTU - 4 128595288 C T 0 0 2 0 0 0 2
AutG2195FAT1 - 4 187524608 T C 0 0 2 0 0 0 2
AutG2195FAT1 - 4 187538324 T G 0 0 2 0 0 0 2
AutG57491AHRR - 5 422895 C G 0 0 2 0 0 0 2 Positive
AutG6531SLC6A3 - 5 1414895 G A 0 0 2 0 0 0 2 Positive
AutG54545MTMR12 - 5 32263299 C T 0 0 2 0 0 0 2
AutG1601DAB2 - 5 39376856 G C 0 0 2 0 0 0 2
AutG493869GPX8 - 5 54456842 G A 0 0 2 0 0 0 2
AutG4208MEF2C - 5 88100432 T C 0 0 2 0 0 0 2 Positive
AutG1105CHD1 - 5 98216794 G C 0 0 2 0 0 0 2 Positive

Page Counts: 572/584  
572 First  Previous  571  572  573  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