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
AutG140453MUC17 - 7 100682275 A G 0 0 1 0 0 0 1
AutG8985PLOD3 - 7 100850973 C T 0 0 1 0 0 0 1
AutG8985PLOD3 - 7 100856461 C Y 0 0 1 0 0 0 1
AutG1523CUX1 - 7 101821789 T C 0 0 1 0 0 0 1
AutG375611SLC26A5 - 7 103014942 G C 0 0 1 0 0 0 1
AutG5649RELN - 7 103155785 C T 0 0 1 0 0 0 1 Positive
AutG5649RELN - 7 103162572 A G 0 0 1 0 0 0 1 Positive
AutG5649RELN - 7 103163929 G A 0 0 1 0 0 0 1
AutG5649RELN - 7 103207069 G A 0 0 1 0 0 0 1
AutG375612LHFPL3 - 7 104417325 C T 0 0 1 0 0 0 1
AutG55904MLL5 - 7 104702706 AC A 0 0 1 0 0 0 1
AutG55904MLL5 - 7 104731771 G A 0 0 1 0 0 0 1
AutG6733SRPK2 - 7 104783696 G A 0 0 1 0 0 0 1
AutG10466COG5 - 7 106851655 TGG TG 0 0 1 0 0 0 1
AutG79872CBLL1 - 7 107399132 T G 0 0 1 0 0 0 1
AutG3912LAMB1 - 7 107564710 A G 0 0 1 0 0 0 1 Positive
AutG3912LAMB1 - 7 107569954 G A 0 0 1 0 0 0 1
AutG22798LAMB4 - 7 107669504 C G 0 0 1 0 0 0 1
AutG50640PNPLA8 - 7 108128243 C G 0 0 1 0 0 0 1
AutG4189DNAJB9 - 7 108213622 T K 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