Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225024
rs863225024
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		CG 0.700 CausalMutation CLINVAR A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A. 21346069

2011
dbSNP: rs863225024
rs863225024
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		CG 0.700 CausalMutation CLINVAR New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. 17711925

2007