rs34715591
|
1.000 |
0.160 |
18 |
23535496 |
missense variant |
G/A;T
|
snv
|
1.0E-03;
4.0E-06
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs370323921
|
1.000 |
0.160 |
18 |
23544391 |
missense variant |
G/C
|
snv
|
|
1.4E-05
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs55680026
|
1.000 |
0.160 |
18 |
23560447 |
missense variant |
T/C
|
snv
|
3.4E-03
|
3.3E-03
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs745777805
|
1.000 |
0.160 |
18 |
23545064 |
missense variant |
G/A;T
|
snv
|
5.2E-05;
4.0E-06
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs745892286
|
1.000 |
0.160 |
18 |
23533391 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs750480579
|
1.000 |
0.160 |
18 |
23544477 |
missense variant |
C/A;T
|
snv
|
1.6E-05
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs752386083
|
1.000 |
0.160 |
18 |
23543466 |
missense variant |
G/T
|
snv
|
8.0E-06
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs758829443
|
1.000 |
0.160 |
18 |
23535657 |
missense variant |
C/T
|
snv
|
4.0E-06
|
2.1E-05
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs761653115
|
1.000 |
0.160 |
18 |
23533402 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs761660695
|
1.000 |
0.160 |
18 |
23548036 |
missense variant |
T/C
|
snv
|
1.2E-05
|
7.0E-06
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs761773567
|
1.000 |
0.160 |
18 |
23536874 |
missense variant |
C/A
|
snv
|
4.0E-06
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs765652543
|
1.000 |
0.160 |
18 |
23544519 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
1.4E-05
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs766178353
|
1.000 |
0.160 |
18 |
23533472 |
missense variant |
A/C
|
snv
|
4.0E-06
|
7.0E-06
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs766301620
|
1.000 |
0.160 |
18 |
23556368 |
missense variant |
G/A;T
|
snv
|
8.0E-06
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs781065429
|
1.000 |
0.160 |
18 |
23554960 |
missense variant |
C/T
|
snv
|
4.0E-05
|
2.1E-05
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs80358253
|
0.925 |
0.160 |
18 |
23541355 |
missense variant |
T/G
|
snv
|
8.0E-06
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs80358258
|
0.925 |
0.160 |
18 |
23536758 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs866966704
|
1.000 |
0.160 |
18 |
23561495 |
missense variant |
G/A
|
snv
|
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs377515417
|
1.000 |
0.160 |
18 |
23554759 |
missense variant |
G/A
|
snv
|
3.2E-05
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
8 |
2001 |
2016 |
rs756815030
|
0.925 |
0.160 |
18 |
23538610 |
frameshift variant |
CT/-
|
del
|
|
7.0E-06
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
8 |
1999 |
2015 |
rs758902805
|
0.925 |
0.160 |
18 |
23533495 |
missense variant |
G/C;T
|
snv
|
8.0E-06
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
8 |
2000 |
2014 |
rs1055204017
|
1.000 |
0.160 |
18 |
23552736 |
intron variant |
C/G;T
|
snv
|
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
7 |
2009 |
2017 |
rs748862167
|
1.000 |
0.160 |
18 |
23534544 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2001 |
2015 |
rs753768576
|
0.925 |
0.160 |
18 |
23539826 |
missense variant |
G/A
|
snv
|
2.4E-05
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2002 |
2016 |
rs1064794009
|
1.000 |
0.160 |
18 |
23533374 |
frameshift variant |
AG/-
|
del
|
|
|
Niemann-Pick Disease, Type C1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
1999 |
2014 |