LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Disease: Familial Partial Lipodystrophy, Type 2 ×
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: 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: 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