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 |
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 |
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 |
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 |
rs121908038
|
0.882 |
0.080 |
19 |
11113293 |
missense variant |
T/A
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
3 |
1995 |
2005 |
rs879254839
|
0.882 |
0.080 |
19 |
11113321 |
missense variant |
G/A;C;T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
3 |
2011 |
2017 |
rs879254857
|
0.925 |
0.080 |
19 |
11113393 |
frameshift variant |
G/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
3 |
2000 |
2005 |
rs746982741
|
0.925 |
0.080 |
19 |
11111550 |
missense variant |
A/C;G
|
snv
|
2.4E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
2 |
1996 |
2005 |
rs753248521
|
0.882 |
0.120 |
19 |
11111523 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
2 |
1998 |
2005 |
rs879254814
|
0.925 |
0.080 |
19 |
11111627 |
missense variant |
T/C
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
2 |
2001 |
2002 |
rs879254850
|
0.776 |
0.160 |
19 |
11113365 |
missense variant |
A/G;T
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
2 |
2001 |
2014 |
rs879254904
|
0.925 |
0.080 |
19 |
11113621 |
missense variant |
A/G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
2 |
1997 |
2010 |
rs879254918
|
0.925 |
0.080 |
19 |
11113651 |
missense variant |
A/G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
2 |
2000 |
2005 |
rs879254851
|
0.882 |
0.120 |
19 |
11113368 |
missense variant |
T/C
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
1 |
1998 |
1998 |
rs570942190
|
0.827 |
0.200 |
19 |
11113337 |
missense variant |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
25 |
1997 |
2016 |
rs373646964
|
0.882 |
0.160 |
19 |
11113650 |
missense variant |
G/A;C
|
snv
|
2.4E-05;
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
20 |
1998 |
2019 |
rs139624145
|
0.925 |
0.080 |
19 |
11113620 |
missense variant |
G/A;C;T
|
snv
|
4.0E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
16 |
1995 |
2016 |
rs121908043
|
0.882 |
0.080 |
19 |
11113307 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
1.6E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
15 |
1996 |
2016 |
rs139617694
|
0.851 |
0.080 |
19 |
11113534 |
splice acceptor variant |
G/A;C
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
15 |
1995 |
2016 |
rs144614838
|
0.882 |
0.080 |
19 |
11113608 |
missense variant |
G/A;T
|
snv
|
2.8E-05
|
2.8E-05
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
15 |
1992 |
2017 |
rs28942079
|
0.925 |
0.080 |
19 |
11113382 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
15 |
1990 |
2017 |
rs879254787
|
1.000 |
0.080 |
19 |
11111543 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
14 |
1973 |
2017 |
rs768430352
|
0.925 |
0.080 |
19 |
11111556 |
missense variant |
G/A;C
|
snv
|
1.2E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
13 |
1973 |
2015 |
rs755667663
|
1.000 |
0.080 |
19 |
11113678 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
2004 |
2016 |