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
AutG5649RELNrs736707 - - - - 0 4 0 0 0 0 4 Negative
AutG26047CNTNAP2rs7794745 - - - - 0 4 0 0 0 0 4
AutG438ASMTrs4446909 Y 1683783 G A 0 4 0 0 0 0 4 Negative
AutG438ASMTrs5989681 Y 1683892 G C 0 4 0 0 0 0 4 Negative
AutG438ASMTrs6644635 Y 1683994 T C 0 4 0 0 0 0 4 Negative
AutG11281POU6F2rs10258862 - - - - 4 0 0 0 0 0 4 Negative
AutG2562GABRB3 - - - - - 0 0 0 0 0 4 4 Positive
AutG1745DLX1rs13390848 2 172957643 G G 0 5 0 0 0 0 5 Negative
AutG6532SLC6A4rs140700 1 28543389 C A 0 5 0 0 0 0 5 Positive
AutG5021OXTRrs2254298 3 8802228 G A 0 5 0 0 0 0 5 Positive
AutG6804STX1Ars3793243 - - - - 0 5 0 0 0 0 5 Negative
AutG6804STX1Ars4363087 - - - - 0 5 0 0 0 0 5 Negative
AutG3690ITGB3rs5918 1 45360730 T C 0 5 0 0 0 0 5 Positive
AutG3356HTR2Ars6313 1 47469940 G C 0 5 0 0 0 0 5 Negative
AutG1745DLX1rs813720 2 172954741 G C 0 5 0 0 0 0 5 Negative
AutG4524MTHFRrs1801133 1 11856378 G C 0 5 0 0 0 0 5 Positive
AutG4233METrs1858830 - - - - 0 5 0 0 0 0 5 Positive
AutG140733MACROD2rs4141463 2 14747471 T C 0 5 0 0 0 0 5 Negative
AutG2020EN2rs1861973 - - - - 0 6 0 0 0 0 6 Positive
AutG6532SLC6A4rs2020936 1 28550814 G C 0 6 0 0 0 0 6 Negative

Page Counts: 583/584  
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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