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
AutG8646CHRDrs34095724 3 184099050 C A 0 1 0 0 0 0 1 Negative
AutG5329PLAURrs344772 1 44179956 C C 0 1 0 0 0 0 1 Positive
AutG5329PLAURrs344780 1 44177867 T C 0 1 0 0 0 0 1 Positive
AutG5329PLAURrs344781 1 44174788 C C 0 1 0 0 0 0 1 Positive
AutG5329PLAURrs344783 1 44172188 T C 0 1 0 0 0 0 1 Positive
AutG4543MTNR1Ars34532313 4 187460490 C C 0 1 0 0 0 0 1 Negative
AutG4233METrs34589476 - - - - 0 1 0 0 0 0 1 Positive
-rs34625939 1 19122981 A A 0 1 0 0 0 0 1 Negative
AutG79838TMC5rs34703505 1 19439229 A A 0 1 0 0 0 0 1 Negative
AutG2020EN2rs34808376 - - - - 0 1 0 0 0 0 1 Positive
AutG54413NLGN3rs35106866 X 70384501 T C 0 1 0 0 0 0 1 Positive
AutG2558GABRA5rs35450068 1 27120276 C C 0 1 0 0 0 0 1 Positive
AutG57020C16orf62rs35486742 1 19634932 C A 0 1 0 0 0 0 1 Negative
-rs35516412 1 22086130 T A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs35560006 1 24047640 A A 0 1 0 0 0 0 1 Positive
AutG84516DCTN5rs35585 1 23677111 G C 0 1 0 0 0 0 1 Negative
AutG2558GABRA5rs35586628 1 27132140 C C 0 1 0 0 0 0 1 Positive
AutG5618PRLRrs35614689 5 35099120 G A 0 1 0 0 0 0 1 Positive
AutG4862NPAS2rs356651 2 101541798 C A 0 1 0 0 0 0 1 Positive
AutG3084NRG1rs35753505 8 31474141 T C 0 1 0 0 0 0 1 Positive

Page Counts: 45/584  
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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