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: 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: 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: 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: 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: 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: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.030 1.000 3 2004 2010
dbSNP: rs137852973
rs137852973 		0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 2007 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: 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: 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: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.020 1.000 2 2009 2011
dbSNP: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.020 1.000 2 2009 2013
dbSNP: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2007 2010
dbSNP: rs137852973
rs137852973 		0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.020 1.000 2 2009 2012
dbSNP: rs137852973
rs137852973 		0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.020 1.000 2 2007 2013
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
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: 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: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-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 0.010 1.000 1 2004 2004
dbSNP: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-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 0.010 1.000 1 2013 2013
dbSNP: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		Neoplasms 0.010 1.000 1 2013 2013