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
AutGGALNT18 - 11 11314679 TCATCCACGGTG TGT 0 0 1 0 0 0 1
AutG374378GALNTL4 - 11 11314679 TCATCCACG&TG T&T 0 0 1 0 0 0 1
AutG1982EIF4G2 - 11 10821664 T C 0 0 1 0 0 0 1
AutG9646CTR9 - 11 10794110 C T 0 0 1 0 0 0 1
AutG23258DENND5A - 11 9172264 T C 0 0 1 0 0 0 1 Positive
AutG57758SCUBE2 - 11 9111335 C T 0 0 1 0 0 0 1
AutG57758SCUBE2 - 11 9077462 A G 0 0 1 0 0 0 1
AutG9866TRIM66 - 11 8673345 C T 0 0 1 0 0 0 1
AutG79608RIC3 - 11 8190433 T C 0 0 1 0 0 0 1
AutG79608RIC3 - 11 8148296 T C 0 0 1 0 0 0 1
AutG8495PPFIBP2 - 11 7663553 T C 0 0 1 0 0 0 1
AutG120776OR2D2 - 11 6913162 T Y 0 0 1 0 0 0 1
AutG8642DCHS1 - 11 6644563 G A 0 0 1 0 0 0 1
AutG23378RRP8 - 11 6623212 T G 0 0 1 0 0 0 1
AutG23378RRP8 - 11 6622574 C T 0 0 1 0 0 0 1 Positive
AutG23378RRP8 - 11 6621480 G A 0 0 1 0 0 0 1
AutG322APBB1 - 11 6422668 G A 0 0 1 0 0 0 1
AutG322APBB1 - 11 6417424 G GC 0 0 1 0 0 0 1
AutG6609SMPD1 - 11 6412699 C A 0 0 1 0 0 0 1
AutG887CCKBR - 11 6307195 C T 0 0 1 0 0 0 1

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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