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
AutG7299TYRrs12419949 1 88922463 G A 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs12439549 1 27663696 A A 0 1 0 0 0 0 1 Negative
AutG27040LAT1rs12444670 1 87870312 C C 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs12445528 1 24038908 G A 0 1 0 0 0 0 1 Positive
AutG257629ANKS4Brs12445673 1 21256225 A A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs12448206 1 24188506 G A 0 1 0 0 0 0 1 Positive
AutG40ACCN1rs12449864 1 32378513 T C 0 1 0 0 0 0 1 Positive
AutG25979DHRS7Brs12452369 1 21033736 C C 0 1 0 0 0 0 1 Positive
AutG3685ITGAVrs12475476 2 187536155 C C 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs12486694 3 178383343 G A 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs12487237 3 178389212 C C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs12488264 3 178272826 A A 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs12494704 3 173707577 T A 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs12497475 3 178386395 G A 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs12498116 3 178272648 T G 0 1 0 0 0 0 1 Positive
AutG1977EIF4Ers12498533 4 99818833 A A 0 1 0 0 0 0 1
AutG4233METrs12535996 - - - - 0 1 0 0 0 0 1 Positive
AutG83943IMMP2Lrs12537269 - - - - 0 1 0 0 0 0 1 Negative
AutG5649RELNrs12538307 - - - - 0 1 0 0 0 0 1 Positive
AutG4698NDUFA5rs12539809 - - - - 0 1 0 0 0 0 1 Negative

Page Counts: 12/584  
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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