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
AutG2567GABRG3rs9635410 1 27638917 A A 0 1 0 0 0 0 1 Negative
AutG4233METrs9641562 - - - - 0 1 0 0 0 0 1 Positive
AutG2049EPHB3rs9647371 3 184284279 C C 0 1 0 0 0 0 1 Negative
AutG7534YWHAZrs964917 8 101937455 T A 0 1 0 0 0 0 1 Positive
AutG4842NOS1rs9658247 1 117801485 C G 0 1 0 0 0 0 1 Negative
AutG4842NOS1rs9658255 1 117799756 C C 0 1 0 0 0 0 1 Negative
AutG2643GCH1rs9671371 1 55328635 C C 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs9672931 1 27606401 G A 0 1 0 0 0 0 1 Negative
AutG57679ALS2rs970595 2 202636911 T A 0 1 0 0 0 0 1 Negative
AutG8604SLC25A12rs970948 2 172668843 C A 0 1 0 0 0 0 1 Negative
AutG27347STK39rs971257 2 168638636 A A 0 1 0 0 0 0 1 Positive
AutG2558GABRA5rs9745027 1 27142266 A G 0 1 0 0 0 0 1 Positive
AutG1750DLX6rs976714 - - - - 0 1 0 0 0 0 1 Negative
AutG5649RELNrs977639 - - - - 0 1 0 0 0 0 1 Positive
AutG170572HTR3Crs9819507 3 183766701 T C 0 1 0 0 0 0 1 Positive
AutG2049EPHB3rs9823034 3 184293610 T C 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs9824836 3 178534143 T C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs9825087 3 178430670 C C 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs983303 3 173347037 T A 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs9837011 3 178267549 C C 0 1 0 0 0 0 1 Positive

Page Counts: 79/584  
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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