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
AutG23389MED13L - 12 116434859 - A 0 0 1 0 0 0 1
AutG23389MED13L - 12 116429238 T C 0 0 1 0 0 0 1
AutG23389MED13L - 12 116424952 C T 0 0 1 0 0 0 1
AutG23389MED13L - 12 116403994 G A 0 0 1 0 0 0 1 Positive
AutG9904RBM19 - 12 114362501 C T 0 0 1 0 0 0 1
AutG9904RBM19 - 12 114362500 C T 0 0 1 0 0 0 1
AutG9904RBM19 - 12 114352870 C T 0 0 1 0 0 0 1
AutG53373TPCN1 - 12 113724837 G A 0 0 1 0 0 0 1
AutG53373TPCN1 - 12 113715195 AG A 0 0 1 0 0 0 1
AutG8437RASAL1 - 12 113544958 C G 0 0 1 0 0 0 1
AutG8437RASAL1 - 12 113537769 G A 0 0 1 0 0 0 1
AutG1840DTX1 - 12 113515286 G A 0 0 1 0 0 0 1 Positive
AutG4940OAS3 - 12 113405230 G T 0 0 1 0 0 0 1
AutG22895RPH3A - 12 113314541 C T 0 0 1 0 0 0 1
AutG5781PTPN11 - 12 112926887 G A 0 0 1 0 0 0 1 Positive
AutG5781PTPN11 - 12 112926270 C T 0 0 1 0 0 0 1 Positive
AutGHECTD4 - 12 112669402 T TG 0 0 1 0 0 0 1
AutG283450C12orf51 - 12 112654745 G C 0 0 1 0 0 0 1
AutG283450C12orf51 - 12 112614406 G A 0 0 1 0 0 0 1
AutG283450C12orf51 - 12 112607491 A C 0 0 1 0 0 0 1

Page Counts: 143/584  
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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