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
AutG7337UBE3Ars2340625 1 25639185 C C 0 1 0 0 0 0 1 Negative
AutG2565GABRG1rs2350439 4 46084417 A A 0 1 0 0 0 0 1 Negative
AutG23671TMEFF2rs2356961 2 193046220 C C 0 1 0 0 0 0 1 Negative
AutG4543MTNR1Ars2375801 4 187471625 T A 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs2378400 - - - - 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs2378401 - - - - 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs237851 3 8834723 A A 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs237890 3 8803657 C C 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs237893 3 8805950 A A 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs237898 3 8808495 A A 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs237902 3 8809184 G A 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs237913 3 8810050 C A 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs237915 3 8810311 T C 0 1 0 0 0 0 1 Positive
AutG6338SCNN1Brs238547 1 23360199 T C 0 1 0 0 0 0 1 Negative
AutG6338SCNN1Brs239345 1 23345938 T A 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs2395961 - - - - 0 1 0 0 0 0 1 Positive
AutG93986FOXP2rs2396753 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs2402118 - - - - 0 1 0 0 0 0 1 Positive
AutG149111CNIH3rs2405525 - - - - 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs2405994 1 57871016 G A 0 1 0 0 0 0 1 Positive

Page Counts: 38/584  
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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