LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044487
rs797044487
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria
A 0.700 CausalMutation CLINVAR Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. 22065502 2011