Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57318642
rs57318642
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.710 GeneticVariation BEFREE Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. 18796515

2008
dbSNP: rs57318642
rs57318642
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		T 0.710 CausalMutation CLINVAR