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
AutG2239GPC4 - X 132496780 T C 0 0 0 0 1 0 1
AutG2719GPC3 - X 133095235 C - 0 0 0 0 1 0 1
AutG79649MAP7D3 - X 135310836 C T 0 0 0 0 1 0 1 Positive
AutG79649MAP7D3 - X 135314112 G A 0 0 0 0 1 0 1 Positive
AutG139378GPR112 - X 135431930 C A 0 0 0 0 1 0 1
AutG8481OFD1 - X 13771497 G C 0 0 0 0 1 0 1 Positive
AutG2258FGF13 - X 138287146 G A 0 0 0 0 1 0 1 Negative
AutG2332FMR1 - X 147019073 A G 0 0 0 0 1 0 1 Positive
AutG2334AFF2 - X 148081861 G C 0 0 0 0 1 0 1 Negative
AutG9248GPR50 - X 150348482 C T 0 0 0 0 1 0 1 Positive
AutG4103MAGEA4 - X 151092546 T A 0 0 0 0 1 0 1 Positive
AutG2564GABRE - X 151123143 C T 0 0 0 0 1 0 1 Negative
AutG55879GABRQ - X 151819020 - - 0 0 0 0 1 0 1 Positive
AutG6535SLC6A8 - X 152959387 C A 0 0 0 0 1 0 1 Positive
AutG6535SLC6A8 - X 152960226 C G 0 0 0 0 1 0 1 Positive
AutG10134BCAP31 - X 152989468 - CA 0 0 0 0 1 0 1 Negative
AutG5365PLXNB3 - X 153037579 - - 0 0 0 0 1 0 1 Negative
AutG3897L1CAM - X 153129005 - - 0 0 0 0 1 0 1 Positive
AutG5973RENBP - X 153210180 - - 0 0 0 0 1 0 1 Negative
AutG4204MECP2 - X 153296046 G C/G 0 0 0 0 1 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