|
rs75932628
|
0.662 |
0.480 |
6 |
41161514 |
missense variant |
C/A;T
|
snv
|
6.8E-05;
2.6E-03
|
|
Alzheimer's Disease
|
Nervous System Diseases; Mental Disorders
|
0.900 |
0.923 |
52 |
2013 |
2020 |
|
rs121908402
|
0.882 |
0.280 |
6 |
41161277 |
missense variant |
A/C
|
snv
|
1.2E-05
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
|
|
0.800 |
1.000 |
9 |
2002 |
2017 |
|
rs28939079
|
1.000 |
|
6 |
41159873 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
|
|
0.800 |
1.000 |
9 |
2002 |
2017 |
|
rs7748513
|
|
|
6 |
41160234 |
intron variant |
A/G
|
snv
|
|
0.17
|
C-reactive protein measurement
|
|
0.800 |
1.000 |
2 |
2012 |
2019 |
|
rs28937876
|
1.000 |
|
6 |
41158991 |
missense variant |
C/A
|
snv
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
|
|
0.800 |
|
0 |
|
|
|
rs143332484
|
1.000 |
0.080 |
6 |
41161469 |
missense variant |
C/A;T
|
snv
|
7.6E-03
|
|
Alzheimer's Disease
|
Nervous System Diseases; Mental Disorders
|
0.740 |
0.800 |
5 |
2015 |
2019 |
|
rs104894002
|
0.790 |
0.320 |
6 |
41161557 |
stop gained |
G/A
|
snv
|
2.0E-05
|
2.1E-05
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.720 |
1.000 |
2 |
2015 |
2019 |
|
rs386834144
|
1.000 |
0.240 |
6 |
41159790 |
splice donor variant |
A/G
|
snv
|
8.0E-06
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2019 |
2019 |
|
rs104894002
|
0.790 |
0.320 |
6 |
41161557 |
stop gained |
G/A
|
snv
|
2.0E-05
|
2.1E-05
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
|
|
0.700 |
1.000 |
5 |
2003 |
2017 |
|
rs104893998
|
0.925 |
0.240 |
6 |
41161421 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
|
|
0.700 |
1.000 |
1 |
2002 |
2002 |
|
rs104893998
|
0.925 |
0.240 |
6 |
41161421 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
|
rs104894001
|
1.000 |
|
6 |
41161522 |
stop gained |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
|
|
0.700 |
1.000 |
1 |
2002 |
2002 |
|
rs121908402
|
0.882 |
0.280 |
6 |
41161277 |
missense variant |
A/C
|
snv
|
1.2E-05
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
|
rs386834142
|
1.000 |
0.240 |
6 |
41163037 |
splice region variant |
CCT/-
|
delins
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
|
rs386834143
|
0.925 |
0.240 |
6 |
41163043 |
stop gained |
C/A
|
snv
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
|
|
0.700 |
1.000 |
1 |
2003 |
2003 |
|
rs104894002
|
0.790 |
0.320 |
6 |
41161557 |
stop gained |
G/A
|
snv
|
2.0E-05
|
2.1E-05
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs201258663
|
0.807 |
0.320 |
6 |
41161457 |
missense variant |
G/A
|
snv
|
5.6E-05
|
4.9E-05
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs386834140
|
1.000 |
0.240 |
6 |
41161385 |
frameshift variant |
C/-
|
delins
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs386834141
|
1.000 |
0.240 |
6 |
41161341 |
frameshift variant |
C/-
|
del
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs386834143
|
0.925 |
0.240 |
6 |
41163043 |
stop gained |
C/A
|
snv
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs797044603
|
0.827 |
0.320 |
6 |
41161541 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs75932628
|
0.662 |
0.480 |
6 |
41161514 |
missense variant |
C/A;T
|
snv
|
6.8E-05;
2.6E-03
|
|
Alzheimer Disease, Late Onset
|
Nervous System Diseases; Mental Disorders
|
0.080 |
1.000 |
8 |
2013 |
2019 |
|
rs75932628
|
0.662 |
0.480 |
6 |
41161514 |
missense variant |
C/A;T
|
snv
|
6.8E-05;
2.6E-03
|
|
Parkinson Disease
|
Nervous System Diseases
|
0.080 |
0.875 |
8 |
2013 |
2016 |
|
rs75932628
|
0.662 |
0.480 |
6 |
41161514 |
missense variant |
C/A;T
|
snv
|
6.8E-05;
2.6E-03
|
|
Neurodegenerative Disorders
|
Nervous System Diseases
|
0.070 |
0.857 |
7 |
2013 |
2020 |
|
rs75932628
|
0.662 |
0.480 |
6 |
41161514 |
missense variant |
C/A;T
|
snv
|
6.8E-05;
2.6E-03
|
|
Frontotemporal dementia
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
0.060 |
0.833 |
6 |
2013 |
2016 |