Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60310264
rs60310264
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		0.820 GeneticVariation BEFREE Mechanics in human fibroblasts and progeria: Lamin A mutation E145K results in stiffening of nuclei. 27677907

2017
dbSNP: rs60310264
rs60310264
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		0.820 GeneticVariation BEFREE Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus. 21941106

2013
dbSNP: rs60310264
rs60310264
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		A 0.820 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
dbSNP: rs60310264
rs60310264
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		0.820 GeneticVariation UNIPROT