LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Atrial Fibrillation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58672172
rs58672172
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE In conclusion, our results indicate that lamin A/C mutation p.Arg399Cys weakens the interaction between nuclear lamina (lamin A/C) and the nuclear pore complex (NUP155), leading to the development of AF. 30488537 2019
dbSNP: rs56793579
rs56793579
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE Affected subjects belonging to the pedigree with heterozygous R62G mutation had atrial fibrillation and required pacemaker implantation. 20041886 2010
dbSNP: rs58912633
rs58912633
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation. 18339564 2008
dbSNP: rs28933093
rs28933093
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM. 12920062 2003
dbSNP: rs61672878
rs61672878
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM. 12920062 2003