LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: 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: rs11575937
rs11575937 		0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.040 1.000 4 2000 2003
dbSNP: rs57520892
rs57520892 		0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2003 2003
dbSNP: rs121912493
rs121912493 		0.925 0.080 1 156136374 missense variant G/A snv 2.1E-05
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs56657623
rs56657623 		0.827 0.120 1 156138540 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000