Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins. 25823658

2015
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics. 25324471

2014
dbSNP: rs57520892
rs57520892
LMNA
C 0.700 CausalMutation CLINVAR Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes. 19933576

2010
dbSNP: rs57520892
rs57520892
LMNA
C 0.700 CausalMutation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2010
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 19084400

2009
dbSNP: rs57520892
rs57520892
LMNA
C 0.700 CausalMutation CLINVAR Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 19084400

2009
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation. 18604166

2008
dbSNP: rs57520892
rs57520892
LMNA
C 0.700 CausalMutation CLINVAR Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. 16218190

2005
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. 14627682

2003
dbSNP: rs57520892
rs57520892
LMNA
C 0.700 CausalMutation CLINVAR Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. 14627682

2003
dbSNP: rs57520892
rs57520892
LMNA
C 0.700 CausalMutation CLINVAR Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. 12075506

2002
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. 12075506

2002
dbSNP: rs57520892
rs57520892
LMNA
C 0.700 CausalMutation CLINVAR Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 10080180

1999
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 10080180

1999