LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Familial Partial Lipodystrophy, Type 2 ×
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: 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: rs11575937
rs11575937 		0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 11 2000 2014
dbSNP: rs57520892
rs57520892 		0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 11 2000 2014
dbSNP: rs57830985
rs57830985 		0.925 0.080 1 156138534 missense variant G/A;T snv 8.2E-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 0.800 1.000 11 2000 2014
dbSNP: rs61282106
rs61282106 		0.925 0.080 1 156136934 missense variant G/A snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 11 2000 2014
dbSNP: rs28928900
rs28928900 		0.925 0.120 1 156115096 missense variant C/G;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs56793579
rs56793579 		0.851 0.240 1 156115102 missense variant C/G;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs59981161
rs59981161 		1.000 0.080 1 156136998 missense variant G/C;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs60864230
rs60864230 		0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs60890628
rs60890628 		0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs61214927
rs61214927 		1.000 0.080 1 156134853 missense variant G/A snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
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: rs62636506
rs62636506 		1.000 0.080 1 156136371 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 11 2000 2014
dbSNP: rs863225024
rs863225024 		1.000 0.080 1 156138749 frameshift variant -/G delins
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2007 2011
dbSNP: rs267607543
rs267607543 		1.000 0.080 1 156137033 splice region variant G/A;C snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs386134243
rs386134243 		0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs57077886
rs57077886 		0.776 0.240 1 156114947 missense variant C/T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs57629361
rs57629361 		0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58672172
rs58672172 		0.882 0.160 1 156136251 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59914820
rs59914820 		0.925 0.160 1 156115000 missense variant C/G;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs150924946
rs150924946 		0.882 0.120 1 156135271 missense variant A/G snv 4.8E-04 1.6E-04
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs918645468
rs918645468 		1.000 0.080 1 156138533 missense variant C/T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018