Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913599
rs121913599
MPZ
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder)
0.800 GeneticVariation UNIPROT The Roussy-Lévy family: from the original description to the gene. 10553995

1999

dbSNP: rs121913599
rs121913599
MPZ
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder)
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913599
rs121913599
MPZ
Charcot-Marie-Tooth Disease, Type Ib
T 0.700 CausalMutation CLINVAR