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
AutG4897NRCAMrs381828 - - - - 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs381901 1 24152467 T C 0 1 0 0 0 0 1 Positive
AutG8604SLC25A12rs3821095 2 172684006 A C 0 1 0 0 0 0 1 Negative
AutG1950EGFrs3822288 4 110854544 C A 0 1 0 0 0 0 1 Negative
AutG1644DDCrs3823674 - - - - 0 1 0 0 0 0 1 Negative
AutG1408CRY2rs3824872 1 45905605 A G 0 1 0 0 0 0 1 Negative
AutG1610DAOrs3825251 1 109287984 A C 0 1 0 0 0 0 1 Negative
AutG51108METTL9rs3826158 1 21638043 G C 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs3826261 1 23877175 G C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs3826262 1 23867397 C A 0 1 0 0 0 0 1 Positive
AutG3655ITGA6rs3828343 2 173343823 G A 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs383341 - - - - 0 1 0 0 0 0 1 Positive
AutG1628DBPrs3848543 1 49141532 T C 0 1 0 0 0 0 1 Negative
AutG4862NPAS2rs3849381 2 101451819 T A 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs3853390 3 173323278 A A 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs3860322 - - - - 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs3861379 3 173428401 G C 0 1 0 0 0 0 1 Positive
AutG1628DBPrs386551 1 49138286 C C 0 1 0 0 0 0 1 Negative
AutG4233METrs38833 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs38838 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 51/584  
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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