Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60890628
rs60890628
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.810 GeneticVariation BEFREE The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations. 16278265

2006
dbSNP: rs60890628
rs60890628
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		T 0.810 CausalMutation CLINVAR

dbSNP: rs60890628
rs60890628
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.810 GeneticVariation UNIPROT