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
AutG157ADRBK2 - 22 26118282 G C 0 0 1 0 0 0 1 Positive
AutG84700MYO18B - 22 26164470 C G 0 0 1 0 0 0 1
AutG84700MYO18B - 22 26224858 C T 0 0 1 0 0 0 1
AutG57168ASPHD2 - 22 26838481 G C 0 0 1 0 0 0 1 Positive
AutG24144TFIP11 - 22 26902369 C T 0 0 1 0 0 0 1
AutG440823MIAT - 22 27674701 C T 0 0 1 0 0 0 1
AutG23331TTC28 - 22 28395403 A G 0 0 1 0 0 0 1
AutG23331TTC28 - 22 28501597 G K 0 0 1 0 0 0 1
AutG83999KREMEN1 - 22 29490351 C A 0 0 1 0 0 0 1
AutG10634GAS2L1 - 22 29706675 G A 0 0 1 0 0 0 1
AutG162AP1B1 - 22 29736801 A T 0 0 1 0 0 0 1
AutG162AP1B1 - 22 29754784 G A 0 0 1 0 0 0 1
AutG5988RFPL1 - 22 29838013 C T 0 0 1 0 0 0 1
AutG4744NEFH - 22 29884893 C G 0 0 1 0 0 0 1
AutG84164ASCC2 - 22 30185167 C A 0 0 1 0 0 0 1
AutG83874TBC1D10A - 22 30691044 G A 0 0 1 0 0 0 1
AutG9514GAL3ST1 - 22 30951564 G C 0 0 1 0 0 0 1 Positive
AutG23762OSBP2 - 22 31284288 C T 0 0 1 0 0 0 1
AutGPRR14L - 22 32108904 A T 0 0 1 0 0 0 1 Positive
AutGPRR14L - 22 32112105 T C 0 0 1 0 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