LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Disease: Cardiomyopathy, Dilated ×
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: 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: 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: rs59301204
rs59301204 		0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.710 1.000 1 2007 2018
dbSNP: rs60682848
rs60682848 		0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.710 1.000 1 2001 2020
dbSNP: rs58034145
rs58034145 		0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.020 1.000 2 2005 2013
dbSNP: rs138592977
rs138592977 		1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs28933090
rs28933090 		0.925 0.160 1 156115172 missense variant T/A;G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs57045855
rs57045855 		0.882 0.040 1 156134464 missense variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs58327533
rs58327533 		1.000 0.120 1 156114991 missense variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs59026483
rs59026483 		0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2004 2004