rs28942084
|
0.763 |
0.200 |
19 |
11120436 |
missense variant |
C/A;T
|
snv
|
2.8E-05
|
4.2E-05
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.780 |
1.000 |
26 |
1989 |
2016 |
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 |
rs121908025
|
0.851 |
0.080 |
19 |
11102732 |
missense variant |
T/C;G
|
snv
|
2.8E-05
|
7.0E-06
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.750 |
1.000 |
12 |
1990 |
2006 |
rs373822756
|
0.807 |
0.200 |
19 |
11105568 |
missense variant |
A/G;T
|
snv
|
5.2E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.720 |
1.000 |
25 |
1989 |
2015 |
rs121908031
|
0.851 |
0.160 |
19 |
11120425 |
stop gained |
C/A;G
|
snv
|
8.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.720 |
1.000 |
16 |
1964 |
2015 |
rs140241383
|
0.925 |
0.080 |
19 |
11107432 |
missense variant |
C/A;T
|
snv
|
2.8E-05;
3.7E-04
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.720 |
1.000 |
13 |
1992 |
2016 |
rs879255000
|
0.851 |
0.080 |
19 |
11116882 |
missense variant |
T/C;G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.720 |
1.000 |
12 |
1996 |
2012 |
rs879254597
|
0.851 |
0.120 |
19 |
11105528 |
stop gained |
G/A;T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.720 |
1.000 |
11 |
1989 |
2012 |
rs368657165
|
0.827 |
0.080 |
19 |
11107436 |
stop gained |
G/A;T
|
snv
|
4.0E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.720 |
1.000 |
10 |
1994 |
2013 |
rs879254558
|
0.925 |
0.080 |
19 |
11105423 |
missense variant |
T/C;G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.720 |
1.000 |
9 |
1992 |
2017 |
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 |
rs879254920
|
0.882 |
0.120 |
19 |
11113665 |
missense variant |
A/C;G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.720 |
0.667 |
3 |
1998 |
2010 |
rs137929307
|
0.752 |
0.240 |
19 |
11116928 |
missense variant |
G/A
|
snv
|
4.4E-05
|
4.9E-05
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
27 |
1992 |
2016 |
rs750518671
|
0.790 |
0.200 |
19 |
11128085 |
missense variant |
G/A;C;T
|
snv
|
8.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
21 |
1995 |
2013 |
rs144172724
|
0.851 |
0.080 |
19 |
11102774 |
stop gained |
G/A;T
|
snv
|
1.6E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
19 |
1992 |
2015 |
rs875989906
|
0.925 |
0.080 |
19 |
11105567 |
missense variant |
G/A;T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
17 |
1991 |
2015 |
rs121908028
|
0.851 |
0.080 |
19 |
11105587 |
missense variant |
C/A;G;T
|
snv
|
8.1E-06;
8.1E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
16 |
1989 |
2016 |
rs200727689
|
0.851 |
0.120 |
19 |
11105408 |
missense variant |
G/A;C;T
|
snv
|
8.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
16 |
1993 |
2016 |
rs28941776
|
0.882 |
0.080 |
19 |
11116153 |
missense variant |
G/A;T
|
snv
|
2.4E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
16 |
1990 |
2015 |
rs28942083
|
0.925 |
0.080 |
19 |
11120382 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
16 |
1990 |
2016 |
rs28942080
|
0.807 |
0.200 |
19 |
11113743 |
missense variant |
G/A;C;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
12 |
1990 |
2016 |
rs121908033
|
0.882 |
0.080 |
19 |
11105429 |
missense variant |
G/A;T
|
snv
|
8.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
8 |
1987 |
2015 |
rs761954844
|
0.882 |
0.120 |
19 |
11110697 |
missense variant |
G/A;T
|
snv
|
1.6E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
7 |
1998 |
2012 |
rs773658037
|
0.882 |
0.160 |
19 |
11113338 |
missense variant |
G/A;C;T
|
snv
|
1.6E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
7 |
1998 |
2018 |
rs879254630
|
0.925 |
0.080 |
19 |
11105577 |
missense variant |
A/C;G;T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
7 |
1992 |
2007 |