Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853220
rs878853220
LMNA
CUI: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature 		G 0.700 CausalMutation CLINVAR New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. 27717888

2016
dbSNP: rs60890628
rs60890628
LMNA
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.010 GeneticVariation BEFREE The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations. 16278265

2006
dbSNP: rs58596362
rs58596362
LMNA
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 GeneticVariation BEFREE The purpose of this study was to investigate a possible association of the C1824T mutation with age-related cataract. 22079058

2012
dbSNP: rs1190613858
rs1190613858
LMNA
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 GeneticVariation BEFREE The purpose of this study was to investigate a possible association of the C1824T mutation with age-related cataract. 22079058

2012
dbSNP: rs267607591
rs267607591
LMNA
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.020 GeneticVariation BEFREE We previously reported the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). 27539898

2016
dbSNP: rs267607591
rs267607591
LMNA
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.020 GeneticVariation BEFREE We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). 25327215

2014
dbSNP: rs397517906
rs397517906
LMNA
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs386134243
rs386134243
LMNA
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs727505038
rs727505038
LMNA
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167345
rs1114167345
LMNA
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs57920071
rs57920071
LMNA
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 GeneticVariation BEFREE Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction. 23846499

2013
dbSNP: rs57920071
rs57920071
LMNA
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 GeneticVariation BEFREE The p.R482W hotspot mutation in A-type nuclear lamins causes familial partial lipodystrophy of Dunnigan-type (FPLD2), a lipodystrophic syndrome complicated by early onset atherosclerosis. 29438482

2018
dbSNP: rs80356814
rs80356814
LMNA
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 GeneticVariation BEFREE The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidaemia, metabolic syndrome, adipose tissue metabolism and obesity phenotypes, suggesting that this polymorphism presents an increased risk of atherosclerosis and vascular diseases. 16117820

2005
dbSNP: rs797044485
rs797044485
LMNA
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 GeneticVariation BEFREE We report a novel lamin A/C (LMNA) mutation, p.Glu223Lys, in a family with extensive atherosclerosis, diabetes mellitus and steatosis hepatis. 23659872

2013
dbSNP: rs60890628
rs60890628
LMNA
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.010 GeneticVariation BEFREE The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations. 16278265

2006
dbSNP: rs57920071
rs57920071
LMNA
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 GeneticVariation BEFREE The p.R482W hotspot mutation in A-type nuclear lamins causes familial partial lipodystrophy of Dunnigan-type (FPLD2), a lipodystrophic syndrome complicated by early onset atherosclerosis. 29438482

2018
dbSNP: rs57920071
rs57920071
LMNA
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 GeneticVariation BEFREE Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction. 23846499

2013
dbSNP: rs80356814
rs80356814
LMNA
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 GeneticVariation BEFREE The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidaemia, metabolic syndrome, adipose tissue metabolism and obesity phenotypes, suggesting that this polymorphism presents an increased risk of atherosclerosis and vascular diseases. 16117820

2005
dbSNP: rs797044485
rs797044485
LMNA
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 GeneticVariation BEFREE We report a novel lamin A/C (LMNA) mutation, p.Glu223Lys, in a family with extensive atherosclerosis, diabetes mellitus and steatosis hepatis. 23659872

2013
dbSNP: rs61672878
rs61672878
LMNA
CUI: C0004238
Disease: Atrial Fibrillation
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: rs58912633
rs58912633
LMNA
CUI: C0004238
Disease: Atrial Fibrillation
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: rs58672172
rs58672172
LMNA
CUI: C0004238
Disease: Atrial Fibrillation
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
LMNA
CUI: C0004238
Disease: Atrial Fibrillation
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: rs28933093
rs28933093
LMNA
CUI: C0004238
Disease: Atrial Fibrillation
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: rs60682848
rs60682848
LMNA
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.010 GeneticVariation BEFREE Lmna R225X mutant mice hold the potential for serving as in vivo models to explore the mechanism and therapeutic methods for AV block or myopathy associated with the aging process. 31668660

2020