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
AutG64221ROBO3rs5017048 1 124734471 G G 0 1 0 0 0 0 1 Positive
AutG6716SRD5A2rs523349 2 31805706 G C 0 1 0 0 0 0 1 Positive
AutG5743PTGS2rs5275 - - - - 0 1 0 0 0 0 1 Positive
AutG91949COG7rs540719 1 23456578 T A 0 1 0 0 0 0 1 Negative
AutG22871NLGN1rs541651 3 173127506 A G 0 1 0 0 0 0 1 Positive
AutG2555GABRA2rs548956 4 46278019 T C 0 1 0 0 0 0 1 Positive
AutG1628DBPrs550455 1 49136515 T C 0 1 0 0 0 0 1 Negative
AutG7166TPH1rs552390 1 17923446 T C 0 1 0 0 0 0 1 Positive
AutG6340SCNN1Grs5723 1 23226787 C C 0 1 0 0 0 0 1 Negative
AutG3082HGFrs5745687 - - - - 0 1 0 0 0 0 1 Negative
AutG8087FXR1rs574769 3 180643587 C C 0 1 0 0 0 0 1 Positive
AutG1399CRKLrs5761368 2 21277471 A A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs582161 1 24123623 G A 0 1 0 0 0 0 1 Positive
-rs583607 - - - - 0 1 0 0 0 0 1 Negative
AutG4128MAOArs5906883 X 43526943 A A 0 1 0 0 0 0 1 Negative
AutG3690ITGB3rs5919 1 45364540 T C 0 1 0 0 0 0 1 Positive
AutG4204MECP2rs5945173 X 153250172 G A 0 1 0 0 0 0 1 Positive
AutG4204MECP2rs5945175 X 153358757 T C 0 1 0 0 0 0 1 Positive
AutG4204MECP2rs5945397 X 153373526 G A 0 1 0 0 0 0 1 Positive
AutG3358HTR2Crs5946005 X 114082535 G A 0 1 0 0 0 0 1 Negative

Page Counts: 60/584  
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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