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
AutG54715A2BP1rs874584 1 7760166 A A 0 1 0 0 0 0 1 Negative
AutG6804STX1Ars875342 - - - - 0 1 0 0 0 0 1 Positive
AutG5020OXTrs877172 2 3049890 T A 0 1 0 0 0 0 1 Positive
AutG1408CRY2rs877412 1 45897651 A A 0 1 0 0 0 0 1 Negative
AutG3350HTR1Ars878567 5 63255991 A C 0 1 0 0 0 0 1 Negative
AutG2569GABRR1rs881293 6 89917803 C C 0 1 0 0 0 0 1 Negative
AutG3690ITGB3rs884696 1 45341244 C G 0 1 0 0 0 0 1 Negative
AutG5187PER1rs885747 1 8050737 G A 0 1 0 0 0 0 1 Positive
AutG8646CHRDrs885838 3 184096578 A C 0 1 0 0 0 0 1 Negative
AutG6338SCNN1Brs886113 1 23330707 G A 0 1 0 0 0 0 1 Negative
AutG7472WNT2rs887575 - - - - 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs888566 3 8825741 T C 0 1 0 0 0 0 1 Positive
AutG5307PITX1rs888685 - - - - 0 1 0 0 0 0 1 Positive
AutG4915NTRK2rs893584 9 87290992 A A 0 1 0 0 0 0 1 Positive
AutG4862NPAS2rs895520 2 101577937 G C 0 1 0 0 0 0 1 Positive
AutG4862NPAS2rs895521 2 101552095 T A 0 1 0 0 0 0 1 Positive
AutG57670KIAA1549rs896193 - - - - 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs897177 1 27486718 T C 0 1 0 0 0 0 1 Negative
AutG57194ATP10Crs901003 1 25925933 C A 0 1 0 0 0 0 1 Positive
-rs902959 - - - - 0 1 0 0 0 0 1 Negative

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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