rs587777607
|
1.000 |
|
11 |
62694660 |
stop gained |
C/A
|
snv
|
|
|
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
|
|
0.700 |
|
0 |
|
|
rs749865861
|
1.000 |
0.040 |
11 |
62705535 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs1057524896
|
1.000 |
0.080 |
11 |
62692798 |
splice acceptor variant |
C/G
|
snv
|
|
|
Monogenic diabetes
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs748287282
|
1.000 |
0.080 |
11 |
62702475 |
missense variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs879253928
|
0.882 |
0.080 |
11 |
62705433 |
missense variant |
A/G
|
snv
|
|
|
Motor Neuron Disease
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs879253928
|
0.882 |
0.080 |
11 |
62705433 |
missense variant |
A/G
|
snv
|
|
|
Spastic paraplegia 17
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs879253928
|
0.882 |
0.080 |
11 |
62705433 |
missense variant |
A/G
|
snv
|
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1057516190
|
1.000 |
0.080 |
11 |
62690439 |
synonymous variant |
G/T
|
snv
|
|
|
Familial Partial Lipodystrophy, Type 3
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1554982914
|
1.000 |
0.080 |
11 |
62690831 |
frameshift variant |
CT/-
|
delins
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137852971
|
1.000 |
0.120 |
11 |
62692413 |
missense variant |
C/G
|
snv
|
4.0E-06;
4.0E-06
|
7.0E-06
|
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 |
rs1565142553
|
1.000 |
0.120 |
11 |
62690523 |
splice acceptor variant |
T/G
|
snv
|
|
|
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 |
rs1565144468
|
1.000 |
0.120 |
11 |
62692463 |
missense variant |
G/A
|
snv
|
|
|
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 |
rs1013079991
|
1.000 |
0.120 |
11 |
62692475 |
splice acceptor variant |
T/C
|
snv
|
|
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057517657
|
1.000 |
0.120 |
11 |
62705371 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057517658
|
1.000 |
0.120 |
11 |
62705357 |
frameshift variant |
-/AA
|
delins
|
4.0E-06
|
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057517659
|
1.000 |
0.120 |
11 |
62705320 |
frameshift variant |
G/TCC
|
delins
|
|
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1064797076
|
1.000 |
0.120 |
11 |
62692385 |
frameshift variant |
AAGTGCGCGTG/-
|
delins
|
|
|
Familial generalized lipodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs137852970
|
1.000 |
0.120 |
11 |
62694594 |
stop gained |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1554983076
|
1.000 |
0.120 |
11 |
62691342 |
frameshift variant |
-/C
|
delins
|
|
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1565144681
|
1.000 |
0.120 |
11 |
62692668 |
frameshift variant |
CT/-
|
delins
|
|
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1565152616
|
1.000 |
0.120 |
11 |
62705300 |
splice donor variant |
C/A
|
snv
|
|
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs557044760
|
1.000 |
0.120 |
11 |
62705303 |
stop gained |
G/A;C
|
snv
|
4.1E-06
|
7.0E-06
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs587777608
|
0.925 |
0.120 |
11 |
62694685 |
frameshift variant |
ATACG/-
|
delins
|
|
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs587777608
|
0.925 |
0.120 |
11 |
62694685 |
frameshift variant |
ATACG/-
|
delins
|
|
|
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
|
|
0.700 |
|
0 |
|
|
rs747297291
|
1.000 |
0.120 |
11 |
62692690 |
protein altering variant |
-/CGG
|
ins
|
8.0E-06
|
|
Congenital Generalized Lipodystrophy Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|