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
AutG54674LRRN3rs280282 6 50568772 T A 0 1 0 0 0 0 1 Negative
AutG54674LRRN3rs280306 6 50611335 T A 0 1 0 0 0 0 1 Negative
AutG54674LRRN3rs280309 6 50606936 T A 0 1 0 0 0 0 1 Negative
AutG54674LRRN3rs280310 6 50605282 C C 0 1 0 0 0 0 1 Negative
-rs2807865 - - - - 0 1 0 0 0 0 1 Negative
AutG25782RAB3GAP2rs2808019 - - - - 0 1 0 0 0 0 1 Positive
AutG163859C1orf55rs2816324 - - - - 0 1 0 0 0 0 1 Negative
AutG2570GABRR2rs282117 6 89981413 T A 0 1 0 0 0 0 1 Negative
AutG5307PITX1rs28330 - - - - 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs28378890 1 27613896 A A 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs28431127 1 27250672 C C 0 1 0 0 0 0 1 Negative
AutG8646CHRDrs2855306 3 184097085 A C 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs28564251 1 27579105 A A 0 1 0 0 0 0 1 Negative
AutG4340MOGrs2857766 6 29634003 G C 0 1 0 0 0 0 1 Negative
AutG8863PER3rs2859387 1 7887248 G A 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs2863186 3 178323314 T G 0 1 0 0 0 0 1 Positive
AutG5290PIK3CArs2865084 3 178864606 A A 0 1 0 0 0 0 1 Negative
AutG124152IQCKrs28681321 1 19782802 C A 0 1 0 0 0 0 1 Negative
AutG51760SYT17rs28707427 1 19208304 T C 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs2873027 1 26867409 C A 0 1 0 0 0 0 1 Positive

Page Counts: 42/584  
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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