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: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.840 1.000 9 2004 2014
dbSNP: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		Nervous System Diseases 0.840 1.000 5 2004 2011
dbSNP: rs137852973
rs137852973 		0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.830 1.000 6 2004 2015
dbSNP: rs137852973
rs137852973 		0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		Nervous System Diseases 0.820 1.000 3 2004 2009
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: 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: rs137852973
rs137852973 		0.752 0.200 11 62702493 missense variant G/A;C snv 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 0.710 1.000 7 2004 2016
dbSNP: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
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 12 2004 2015
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: rs1057524896
rs1057524896 		1.000 0.080 11 62692798 splice acceptor variant C/G snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2012 2012
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: 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: 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: rs1057517657
rs1057517657 		1.000 0.120 11 62705371 missense variant 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: rs1057517658
rs1057517658 		1.000 0.120 11 62705357 frameshift variant -/AA delins 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: rs1057517659
rs1057517659 		1.000 0.120 11 62705320 frameshift variant G/TCC 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: 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: rs137852970
rs137852970 		1.000 0.120 11 62694594 stop gained G/A snv 8.0E-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: rs137852973
rs137852973 		0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		0.700 0
dbSNP: rs137852973
rs137852973 		0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.700 0
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: rs137852975
rs137852975 		0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05
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: rs137852975
rs137852975 		0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 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: 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