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
AutG10165SLC25A13 - 7 95750561 T G 0 0 0 1 0 0 1
AutG55971BAIAP2L1 - 7 97923404 G A 0 0 0 1 0 0 1
AutG4885NPTX2 - 7 98256629 G T 0 0 0 1 0 0 1
AutG64816CYP3A43 - 7 99457566 G A 0 0 0 1 0 0 1
AutG563AZGP1 - 7 99573589 C T 0 0 0 1 0 0 1
AutG79037PVRIG - 7 99817815 G A 0 0 0 1 0 0 1
AutG221908PPP1R35 - 7 100033271 G C 0 0 0 1 0 0 1
AutG51412ACTL6B - 7 100252651 G A 0 0 0 1 0 0 1
AutG10071MUC12 - 7 100636292 G A 0 0 0 1 0 0 1
AutG10071MUC12 - 7 100643391 T G 0 0 0 1 0 0 1
AutG10071MUC12 - 7 100643718 T G 0 0 0 1 0 0 1
AutG10071MUC12 - 7 100645744 C T 0 0 0 1 0 0 1
AutG10071MUC12 - 7 100645791 A C 0 0 0 1 0 0 1
AutG10071MUC12 - 7 100645835 C T 0 0 0 1 0 0 1
AutG10071MUC12 - 7 100645863 C A 0 0 0 1 0 0 1
AutG10071MUC12 - 7 100646887 C G 0 0 0 1 0 0 1
AutG5649RELN - 7 103130237 C T 0 0 0 1 0 0 1 Positive
- 7 124290632 A G 0 0 0 1 0 0 1
AutG3614IMPDH1 - 7 128040992 C T 0 0 0 1 0 0 1
AutG91584PLXNA4 - 7 131825445 G A 0 0 0 1 0 0 1 Positive

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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