LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Familial partial lipodystrophy ×
Source: ALL
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: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.100 1.000 14 2001 2018
dbSNP: rs11575937
rs11575937 		0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.100 1.000 10 2000 2020
dbSNP: rs57830985
rs57830985 		0.925 0.080 1 156138534 missense variant G/A;T snv 8.2E-06 7.0E-06
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2000 2000
dbSNP: rs1057156731
rs1057156731 		0.925 0.120 1 156137730 missense variant T/A snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs267607545
rs267607545 		0.882 0.200 1 156136121 missense variant G/A;C;T snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs267607608
rs267607608 		1.000 0.080 1 156115057 missense variant G/A;C snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28928902
rs28928902 		0.851 0.160 1 156136951 missense variant C/G;T snv 1.2E-05
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs397517892
rs397517892 		0.851 0.240 1 156136419 missense variant C/T snv 9.9E-06 1.4E-05
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002
dbSNP: rs56657623
rs56657623 		0.827 0.120 1 156138540 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs57747780
rs57747780 		0.925 0.200 1 156136981 missense variant T/C snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2001 2001
dbSNP: rs58932704
rs58932704 		0.776 0.200 1 156136413 missense variant C/T snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs61282106
rs61282106 		0.925 0.080 1 156136934 missense variant G/A snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003