Disease: Familial generalized 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: rs606231168
rs606231168 		0.925 0.120 9 136676681 splice acceptor variant C/G snv 4.0E-06 7.0E-06
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs764260414
rs764260414 		0.925 0.120 9 136677440 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs563539429
rs563539429 		0.851 0.240 9 136677540 missense variant C/A;G;T snv 4.1E-06; 8.1E-06; 1.5E-03
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013