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
AutG152206CCDC13 - 3 42772009 G A 0 0 0 1 0 0 1
AutG1232CCR3 - 3 46307288 C T 0 0 0 1 0 0 1
AutG25930PTPN23 - 3 47437547 T C 0 0 0 1 0 0 1
AutG4134MAP4 - 3 47918907 C T 0 0 0 1 0 0 1
AutG10181RBM5 - 3 50154707 T C 0 0 0 1 0 0 1
AutG3697ITIH1 - 3 52813031 G C 0 0 0 1 0 0 1 Positive
- 3 102196241 A G 0 0 0 1 0 0 1
AutG64091POPDC2 - 3 119367114 G A 0 0 0 1 0 0 1
AutG79663HSPBAP1 - 3 122487519 C G 0 0 0 1 0 0 1
AutG5096PCCB - 3 136016845 G A 0 0 0 1 0 0 1 Positive
AutG389152PRR23C - 3 138762808 A G 0 0 0 1 0 0 1
AutG253461ZBTB38 - 3 141163203 A T 0 0 0 1 0 0 1
AutG54464XRN1 - 3 142151632 A G 0 0 0 1 0 0 1 Positive
AutG545ATR - 3 142185303 T C 0 0 0 1 0 0 1
- 3 151150462 G A 0 0 0 1 0 0 1
AutG23007PLCH1 - 3 155208647 G C 0 0 0 1 0 0 1 Positive
AutG389170LEKR1 - 3 156570593 G A 0 0 0 1 0 0 1
AutG151827LRRC34 - 3 169513985 T A 0 0 0 1 0 0 1
AutG55669MFN1 - 3 179096450 A T 0 0 0 1 0 0 1 Positive
AutG1962EHHADH - 3 184910031 G A 0 0 0 1 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