Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60864230
rs60864230
LMNA
A 0.700 CausalMutation CLINVAR Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. 16174718

2005
dbSNP: rs60864230
rs60864230
LMNA
A 0.700 CausalMutation CLINVAR LMNA mutations in atypical Werner's syndrome. 14615128

2003
dbSNP: rs60864230
rs60864230
LMNA
A 0.700 CausalMutation CLINVAR LMNA mutations in atypical Werner's syndrome. 12927431

2003
dbSNP: rs60864230
rs60864230
LMNA
A 0.700 CausalMutation CLINVAR A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. 12629077

2003
dbSNP: rs60864230
rs60864230
LMNA
A 0.700 CausalMutation CLINVAR Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 11503164

2001