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
AutG4047LSS - 21 47628169 C T 0 0 0 1 0 0 1
AutG23784POTEH - 22 16279213 G A 0 0 0 1 0 0 1
AutG140883ZNF280B - 22 22843578 A C 0 0 0 1 0 0 1
AutG440822PIWIL3 - 22 25123995 A G 0 0 0 1 0 0 1 Positive
AutG10521DDX17 - 22 38884082 G A 0 0 0 1 0 0 1 Positive
AutG8911CACNA1I - 22 40066099 C T 0 0 0 1 0 0 1
AutG2033EP300 - 22 41536148 C A 0 0 0 1 0 0 1
AutG6721SREBF2 - 22 42294664 A G 0 0 0 1 0 0 1
AutG9620CELSR1 - 22 46777752 C T 0 0 0 1 0 0 1 Positive
AutG23151GRAMD4 - 22 47068805 G A 0 0 0 1 0 0 1
AutG10752CHL1 - 3 386367 C G 0 0 0 1 0 0 1
AutG79885HDAC11 - 3 13522828 A T 0 0 0 1 0 0 1
AutG8850KAT2B - 3 20161089 G A 0 0 0 1 0 0 1
AutG7048TGFBR2 - 3 30715656 T C 0 0 0 1 0 0 1
AutG9940DLEC1 - 3 38105382 C A 0 0 0 1 0 0 1 Positive
AutG9389SLC22A14 - 3 38349069 C T 0 0 0 1 0 0 1
AutG9941EXOG - 3 38537991 G T 0 0 0 1 0 0 1
AutG1499CTNNB1 - 3 41274877 G A 0 0 0 1 0 0 1 Positive
AutG9117SEC22C - 3 42610365 A G 0 0 0 1 0 0 1
AutG57467HHATL - 3 42735111 C T 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