Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913595
rs121913595
MPZ
0.810 GeneticVariation UNIPROT Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. 16775239

2006

dbSNP: rs121913595
rs121913595
MPZ
0.810 GeneticVariation UNIPROT Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation. 15326256

2004

dbSNP: rs121913595
rs121913595
MPZ
0.810 GeneticVariation UNIPROT An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). 11080237

2000

dbSNP: rs121913595
rs121913595
MPZ
0.810 GeneticVariation UNIPROT The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. 10071056

1999

dbSNP: rs121913597
rs121913597
MPZ
0.800 GeneticVariation UNIPROT Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. 16775239

2006

dbSNP: rs121913606
rs121913606
MPZ
0.800 GeneticVariation UNIPROT Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. 16775239

2006

dbSNP: rs121913597
rs121913597
MPZ
0.800 GeneticVariation UNIPROT Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation. 15326256

2004

dbSNP: rs121913606
rs121913606
MPZ
0.800 GeneticVariation UNIPROT Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation. 15326256

2004

dbSNP: rs121913597
rs121913597
MPZ
0.800 GeneticVariation UNIPROT An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). 11080237

2000

dbSNP: rs121913606
rs121913606
MPZ
0.800 GeneticVariation UNIPROT An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). 11080237

2000

dbSNP: rs121913597
rs121913597
MPZ
0.800 GeneticVariation UNIPROT The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. 10071056

1999

dbSNP: rs121913606
rs121913606
MPZ
0.800 GeneticVariation UNIPROT The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. 10071056

1999