Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58932704
rs58932704
LMNA
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.010 GeneticVariation BEFREE We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy. 12913070

2003