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: rs72551364
rs72551364 		0.851 0.160 3 12433900 missense variant C/T snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2002 2007
dbSNP: rs1354592503
rs1354592503 		0.925 0.120 3 12381463 missense variant A/G snv 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 2011 2011
dbSNP: rs72551363
rs72551363 		0.882 0.080 3 12417048 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 2002 2002