LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Disease: Cardiomyopathy, Familial Idiopathic ×
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: 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: 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: 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: rs59026483
rs59026483 		0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.710 0.944 1 1999 2012
dbSNP: rs60682848
rs60682848 		0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.030 1.000 3 2007 2020
dbSNP: rs61672878
rs61672878 		0.776 0.200 1 156136094 missense variant G/A;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.020 1.000 2 2003 2003
dbSNP: rs138592977
rs138592977 		1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs141490569
rs141490569 		1.000 0.040 1 156136258 missense variant G/A snv 8.0E-05 9.8E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs142000963
rs142000963 		0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs397517907
rs397517907 		0.925 0.080 1 156134914 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4641
rs4641 		0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs56657623
rs56657623 		0.827 0.120 1 156138540 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs58034145
rs58034145 		0.827 0.160 1 156134830 missense variant A/C snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs59301204
rs59301204 		0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61444459
rs61444459 		0.851 0.160 1 156137667 missense variant G/A;C snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs760318158
rs760318158 		1.000 0.040 1 156126897 missense variant C/T snv 2.3E-04 6.3E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs775964460
rs775964460 		1.000 0.040 1 156134883 missense variant C/T snv 8.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015