Disease: 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: rs121909244
rs121909244 		0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2005 2010
dbSNP: rs1801282
rs1801282 		0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 0.500 2 2009 2014
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 0.500 2 2009 2014
dbSNP: rs72551362
rs72551362 		0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs72551364
rs72551364 		0.851 0.160 3 12433900 missense variant C/T snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005