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: rs1057516190
rs1057516190 		1.000 0.080 11 62690439 synonymous variant G/T snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1565142553
rs1565142553 		1.000 0.120 11 62690523 splice acceptor variant T/G snv
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1554982914
rs1554982914 		1.000 0.080 11 62690831 frameshift variant CT/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs137852974
rs137852974 		0.925 0.200 11 62691132 stop gained G/A snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs137852974
rs137852974 		0.925 0.200 11 62691132 stop gained G/A snv 4.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs879254029
rs879254029 		1.000 0.120 11 62691143 splice acceptor variant T/C snv
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587777606
rs587777606 		0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.030 1.000 3 2015 2019
dbSNP: rs587777606
rs587777606 		0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2019
dbSNP: rs587777606
rs587777606 		0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C4014700
Disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY 		0.720 1.000 2 2016 2019
dbSNP: rs587777606
rs587777606 		0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs587777606
rs587777606 		0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs587777606
rs587777606 		0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs749890533
rs749890533 		1.000 0.120 11 62691310 frameshift variant -/C delins 1.4E-05
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554983076
rs1554983076 		1.000 0.120 11 62691342 frameshift variant -/C delins
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs766061024
rs766061024 		1.000 0.120 11 62691423 splice acceptor variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs786205073
rs786205073 		1.000 0.120 11 62691424 splice region variant G/C snv
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs786205072
rs786205072 		1.000 0.120 11 62692371 splice region variant C/T snv
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1064797076
rs1064797076 		1.000 0.120 11 62692385 frameshift variant AAGTGCGCGTG/- delins
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: rs758843908
rs758843908 		1.000 0.120 11 62692411 frameshift variant G/- delins
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137852971
rs137852971 		1.000 0.120 11 62692413 missense variant C/G snv 4.0E-06; 4.0E-06 7.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 2 2001 2008
dbSNP: rs1565144468
rs1565144468 		1.000 0.120 11 62692463 missense variant G/A snv
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1013079991
rs1013079991 		1.000 0.120 11 62692475 splice acceptor variant T/C snv
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1565144681
rs1565144681 		1.000 0.120 11 62692668 frameshift variant CT/- delins
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137852975
rs137852975 		0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 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 0.020 1.000 2 2007 2009
dbSNP: rs137852975
rs137852975 		0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.020 1.000 2 2007 2016