rs28942078
|
0.827 |
0.080 |
19 |
11113376 |
missense variant |
G/A;C;T
|
snv
|
1.2E-05
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.840 |
1.000 |
35 |
1989 |
2017 |
rs28942080
|
0.807 |
0.200 |
19 |
11113743 |
missense variant |
G/A;C;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
32 |
1989 |
2017 |
rs879254849
|
0.925 |
0.080 |
19 |
11113359 |
missense variant |
T/C
|
snv
|
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
32 |
1989 |
2017 |
rs773658037
|
0.882 |
0.160 |
19 |
11113338 |
missense variant |
G/A;C;T
|
snv
|
1.6E-05
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
12 |
2004 |
2018 |
rs570942190
|
0.827 |
0.200 |
19 |
11113337 |
missense variant |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
38 |
1989 |
2017 |
rs139624145
|
0.925 |
0.080 |
19 |
11113620 |
missense variant |
G/A;C;T
|
snv
|
4.0E-05
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
34 |
1989 |
2017 |
rs121908036
|
0.925 |
0.080 |
19 |
11113388 |
missense variant |
G/C;T
|
snv
|
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
31 |
1989 |
2017 |
rs121908043
|
0.882 |
0.080 |
19 |
11113307 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
1.6E-05
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
31 |
1989 |
2017 |
rs28942079
|
0.925 |
0.080 |
19 |
11113382 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
31 |
1989 |
2017 |
rs879254791
|
0.925 |
0.080 |
19 |
11111555 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
31 |
1989 |
2017 |
rs879254797
|
0.925 |
0.080 |
19 |
11111571 |
missense variant |
G/A;C;T
|
snv
|
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
31 |
1989 |
2017 |
rs879254874
|
0.925 |
0.080 |
19 |
11113443 |
missense variant |
T/C
|
snv
|
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
31 |
1989 |
2017 |
rs879254900
|
0.882 |
0.080 |
19 |
11113612 |
missense variant |
T/C
|
snv
|
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
31 |
1989 |
2017 |
rs146200173
|
0.882 |
0.080 |
19 |
11113292 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1989 |
2012 |
rs373646964
|
0.882 |
0.160 |
19 |
11113650 |
missense variant |
G/A;C
|
snv
|
2.4E-05;
4.0E-06
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1989 |
2012 |
rs730882106
|
0.882 |
0.080 |
19 |
11113752 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
11 |
2004 |
2017 |
rs745343524
|
0.925 |
0.080 |
19 |
11113392 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
11 |
2004 |
2017 |
rs748554592
|
0.925 |
0.080 |
19 |
11113332 |
missense variant |
T/G
|
snv
|
8.0E-06
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
11 |
2004 |
2017 |
rs767767730
|
0.882 |
0.160 |
19 |
11111519 |
missense variant |
G/A;C;T
|
snv
|
1.2E-05
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
11 |
2004 |
2017 |
rs768430352
|
0.925 |
0.080 |
19 |
11111556 |
missense variant |
G/A;C
|
snv
|
1.2E-05
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
11 |
2004 |
2017 |
rs875989915
|
0.882 |
0.080 |
19 |
11111526 |
missense variant |
G/A
|
snv
|
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
11 |
2004 |
2017 |
rs5930
|
0.827 |
0.200 |
19 |
11113589 |
synonymous variant |
A/G
|
snv
|
0.63
|
0.66
|
Serum total cholesterol measurement
|
|
0.800 |
1.000 |
2 |
2012 |
2018 |
rs137943601
|
0.851 |
0.120 |
19 |
11113313 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
Hyperlipoproteinemia Type IIa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs28942078
|
0.827 |
0.080 |
19 |
11113376 |
missense variant |
G/A;C;T
|
snv
|
1.2E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.760 |
1.000 |
22 |
1989 |
2016 |
rs879254842
|
0.882 |
0.080 |
19 |
11113326 |
missense variant |
T/C
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.720 |
1.000 |
3 |
2000 |
2010 |