Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59886214
rs59886214
LMNA
0.710 GeneticVariation BEFREE We describe a patient with the heterozygous LMNA mutation c.1821G>A, leading to neonatal progeria with death in the first year of life. 22419169

2012
dbSNP: rs59886214
rs59886214
LMNA
A 0.710 CausalMutation CLINVAR Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. 17469202

2007