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
AutG9369NRXN3rs12879016 - - - - 0 1 0 0 0 0 1 Negative
AutG7804LRP8rs1288502 1 53757154 C G 0 1 0 0 0 0 1 Positive
AutG6263RYR3rs12907278 1 33973177 A A 0 1 0 0 0 0 1 Negative
AutG6638SNRPNrs12907375 1 25600322 A A 0 1 0 0 0 0 1 Positive
AutG6263RYR3rs12916967 1 34071656 G A 0 1 0 0 0 0 1 Negative
AutG3211HOXB1rs12939811 1 46607958 T A 0 1 0 0 0 0 1 Negative
AutG3351HTR1Brs130058 6 78173281 T A 0 1 0 0 0 0 1 Positive
AutG3351HTR1Brs130075 6 31122502 C A 0 1 0 0 0 0 1 Positive
AutG5191PEX7rs1321473 - - - - 0 1 0 0 0 0 1 Positive
AutG5054SERPINE1rs13238709 - - - - 0 1 0 0 0 0 1 Negative
AutGJMJD2Crs1340513 9 6977633 G C 0 1 0 0 0 0 1 Positive
AutG5191PEX7rs1342645 - - - - 0 1 0 0 0 0 1 Positive
AutG9086EIF1AYrs13447352 Y 22749853 A A 0 1 0 0 0 0 1 Positive
AutG9086EIF1AYrs13447354 Y 22750951 G A 0 1 0 0 0 0 1 Positive
AutG143458LDLRAD3rs1358054 1 36206672 C A 0 1 0 0 0 0 1 Negative
AutG4916NTRK3rs1368430 - - - - 0 1 0 0 0 0 1 Positive
AutG11000SLC27A3rs138225868 - - - - 0 1 0 0 0 0 1 Negative
AutG10999SLC27A4rs138443340 9 131107544 C C 0 1 0 0 0 0 1 Negative
AutG2055CLN8rs138581191 8 1719675 A A 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs1386488 1 72344618 C A 0 1 0 0 0 0 1 Positive

Page Counts: 87/584  
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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