LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Source: BEFREE ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs57920071
rs57920071 		0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.830 1.000 3 2014 2018
dbSNP: rs57318642
rs57318642 		0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 2 2003 2013
dbSNP: rs60310264
rs60310264 		0.827 0.200 1 156130693 missense variant G/A snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 2 2003 2017
dbSNP: rs267607578
rs267607578 		0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.810 1.000 1 1999 2014
dbSNP: rs28933093
rs28933093 		0.882 0.160 1 156130741 missense variant G/A snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.810 1.000 1 1999 2012
dbSNP: rs56984562
rs56984562 		0.827 0.200 1 156137666 missense variant C/A;G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.810 1.000 1 1999 2017
dbSNP: rs57520892
rs57520892 		0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.810 1.000 1 2002 2006
dbSNP: rs58932704
rs58932704 		0.776 0.200 1 156136413 missense variant C/T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 1 2008 2017
dbSNP: rs60580541
rs60580541 		1.000 0.120 1 156137210 missense variant C/T snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.810 1.000 1 2005 2005
dbSNP: rs60890628
rs60890628 		0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.810 1.000 1 2006 2006
dbSNP: rs58596362
rs58596362 		0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.790 0.917 9 2003 2018
dbSNP: rs58912633
rs58912633 		0.851 0.240 1 156130688 missense variant C/G;T snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.730 1.000 3 2003 2015
dbSNP: rs59885338
rs59885338 		0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.730 1.000 3 2003 2008
dbSNP: rs57045855
rs57045855 		0.882 0.040 1 156134464 missense variant A/G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.720 1.000 2 1999 2012
dbSNP: rs59267781
rs59267781 		0.851 0.120 1 156138657 missense variant C/G snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.720 1.000 2 2004 2016
dbSNP: rs59270054
rs59270054 		0.925 0.120 1 156115162 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.720 1.000 2 2005 2010
dbSNP: rs61661343
rs61661343 		0.851 0.040 1 156130687 missense variant T/C snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.720 1.000 2 1999 2019
dbSNP: rs142000963
rs142000963 		0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2008 2008
dbSNP: rs267607547
rs267607547 		1.000 0.080 1 156137664 missense variant T/C snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2006 2014
dbSNP: rs267607555
rs267607555 		0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 2020 2020
dbSNP: rs28933091
rs28933091 		0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2001 2001
dbSNP: rs28933091
rs28933091 		0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.710 1.000 1 1999 2007
dbSNP: rs56673169
rs56673169 		0.925 0.160 1 156137671 missense variant G/C snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2011 2011
dbSNP: rs56793579
rs56793579 		0.851 0.240 1 156115102 missense variant C/G;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.710 1.000 1 2002 2010
dbSNP: rs57077886
rs57077886 		0.776 0.240 1 156114947 missense variant C/T snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 2008 2008