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
AutG5783PTPN13 - 4 87684079 T C 0 0 1 0 0 0 1
AutG5783PTPN13 - 4 87696594 G A 0 0 1 0 0 0 1
AutG5783PTPN13 - 4 87705622 C G 0 0 1 0 0 0 1
AutG5783PTP13 - 4 87705691 C A 0 0 1 0 0 0 1
AutG8404SPARCL1 - 4 88412805 G A 0 0 1 0 0 0 1
AutG8404SPARCL1 - 4 88416183 C A 0 0 1 0 0 0 1
AutG1834DSPP - 4 88537294 T C 0 0 1 0 0 0 1
AutG22915MMRN1 - 4 91040619 T C 0 0 1 0 0 0 1
AutG401145FAM190A - 4 91549237 C T 0 0 1 0 0 0 1
AutG2895GRID2 - 4 93564738 C T 0 0 1 0 0 0 1
AutG2895GRID2 - 4 94377044 C G 0 0 1 0 0 0 1
AutG27306HPGDS - 4 95220672 C T 0 0 1 0 0 0 1
AutG27306HPGDS - 4 95220705 T A 0 0 1 0 0 0 1
AutG10611PDLIM5 - 4 95605988 T G 0 0 1 0 0 0 1
AutG8633UNC5C - 4 96248588 C A 0 0 1 0 0 0 1
AutG1977EIF4E - 4 99812415 T A 0 0 1 0 0 0 1 Positive
AutG4126MANBA - 4 103592542 A G 0 0 1 0 0 0 1
AutG4126MANBA - 4 103644163 G C 0 0 1 0 0 0 1 Positive
AutG493856CISD2 - 4 103796600 G C 0 0 1 0 0 0 1
AutGSLC9B2 - 4 103991061 G A 0 0 1 0 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