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
AutG2020EN2rs1861972 - - - - 0 2 0 0 0 0 2 Positive
AutG2020EN2rs1861973 - - - - 0 2 0 0 0 0 2 Positive
AutG5021OXTRrs2254298 3 8802228 G A 0 2 0 0 0 0 2
AutG5021OXTRrs2301261 3 8810896 C A 0 2 0 0 0 0 2
AutG1812DRD1rs251937 - - - - 0 2 0 0 0 0 2 Positive
AutG26047CNTNAP2rs2710102 - - - - 0 2 0 0 0 0 2 Negative
rs317985 5 66737802 C A 0 2 0 0 0 0 2 Positive
AutG5649RELNrs362691 - - - - 0 2 0 0 0 0 2 Positive
rs3861787 1 4647770 T G 0 2 0 0 0 0 2 Positive
AutG121278TPH2rs4341581 1 72335073 G G 0 2 0 0 0 0 2 Positive
AutG5021OXTRrs53576 3 8804371 A A 0 2 0 0 0 0 2
AutG3356HTR2Ars6311 1 47471478 C C 0 2 0 0 0 0 2 Negative
AutG1644DDCrs6592961 - - - - 0 2 0 0 0 0 2 Positive
AutG5649RELNrs736707 - - - - 0 2 0 0 0 0 2 Positive
rs757099 9 25737567 T C 0 2 0 0 0 0 2 Positive
rs7785107 - - - - 0 2 0 0 0 0 2 Positive
AutG26047CNTNAP2rs7794745 - - - - 0 2 0 0 0 0 2 Positive
AutG55128TRIM68rs7950390 1 4631352 T G 0 2 0 0 0 0 2 Negative
AutG2904GRIN2Brs918168 1 14078634 C C 0 2 0 0 0 0 2 Positive
AutG85358SHANK3rs9616915 2 51117580 T C 0 2 0 0 0 0 2 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