Disease: Familial Partial Lipodystrophy, Type 3 ×
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: rs72551363
rs72551363 		0.882 0.080 3 12417048 missense variant T/A snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 2 2002 2002
dbSNP: rs72551364
rs72551364 		0.851 0.160 3 12433900 missense variant C/T snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 2 2002 2002
dbSNP: rs121909244
rs121909244 		0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 2000 2014
dbSNP: rs121909245
rs121909245 		0.925 0.080 3 12392701 missense variant T/A snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121909246
rs121909246 		1.000 0.080 3 12392713 missense variant C/T snv 4.0E-06
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1378972597
rs1378972597 		1.000 0.080 3 12416855 missense variant T/C snv 4.0E-06
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs148195788
rs148195788 		1.000 0.080 3 12392714 missense variant G/A snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553643326
rs1553643326 		1.000 0.080 3 12381481 missense variant A/G snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553647989
rs1553647989 		1.000 0.080 3 12405897 missense variant G/A snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553650477
rs1553650477 		1.000 0.080 3 12416893 frameshift variant CTTGA/- delins
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553653993
rs1553653993 		1.000 0.080 3 12433979 missense variant T/C snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs72551362
rs72551362 		0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs770557781
rs770557781 		1.000 0.080 3 12433986 frameshift variant C/- delins 8.0E-06
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0