Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60580541
rs60580541
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.810 GeneticVariation BEFREE A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. 15998779

2005

dbSNP: rs60580541
rs60580541
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
T 0.810 CausalMutation CLINVAR

dbSNP: rs60580541
rs60580541
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.810 GeneticVariation UNIPROT