Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60652225
rs60652225
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.010 GeneticVariation BEFREE We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features. 17150192

2007