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
AutG9378NRXN1 - 2 50149217 G C 0 0 1 0 0 0 1
AutG9378NRXN1 - 2 50170866 AG A 0 0 1 0 0 0 1
AutG9378NRXN1 - 2 50318536 C T 0 0 1 0 0 0 1
AutG9378NRXN1 - 2 50724605 A T 0 0 1 0 0 0 1
AutG9378NRXN1 - 2 50850511 T G 0 0 1 0 0 0 1 Positive
AutG9378NRXN1 - 2 51254825 G T 0 0 1 0 0 0 1 Positive
AutG9378NRXN1 - 2 51255348 C G 0 0 1 0 0 0 1 Positive
AutG9378NRXN1 - 2 52580359 A T 0 0 1 0 0 0 1
AutG23198PSME4 - 2 54114533 G A 0 0 1 0 0 0 1
AutG23198PSME4 - 2 54135923 A C 0 0 1 0 0 0 1 Positive
AutG6711SPTBN1 - 2 54858514 G C 0 0 1 0 0 0 1
AutG57142RTN4 - 2 55253033 T C 0 0 1 0 0 0 1
AutGCLHC1 - 2 55436920 T G 0 0 1 0 0 0 1
AutG57223SMEK2 - 2 55808728 G C 0 0 1 0 0 0 1
AutG57223SMEK2 - 2 55825640 G C 0 0 1 0 0 0 1
AutG57223SMEK2 - 2 55826186 C G 0 0 1 0 0 0 1
AutG114800CCDC85A - 2 58231223 T A 0 0 1 0 0 0 1
AutG7444VRK2 - 2 58288501 T A 0 0 1 0 0 0 1
AutG400955FLJ30838 - 2 58923308 T C 0 0 1 0 0 0 1
AutG400955FLJ30838 - 2 59145178 A G 0 0 1 0 0 0 1

Page Counts: 273/584  
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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