rs28942084
|
0.763 |
0.200 |
19 |
11120436 |
missense variant |
C/A;T
|
snv
|
2.8E-05
|
4.2E-05
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
12 |
1989 |
2015 |
rs121908025
|
0.851 |
0.080 |
19 |
11102732 |
missense variant |
T/C;G
|
snv
|
2.8E-05
|
7.0E-06
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
9 |
1990 |
2014 |
rs875989929
|
0.882 |
0.080 |
19 |
11116888 |
missense variant |
G/A;T
|
snv
|
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
6 |
1992 |
2017 |
rs730882096
|
0.882 |
0.080 |
19 |
11110738 |
missense variant |
G/A;T
|
snv
|
2.8E-05
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
19 |
1992 |
2017 |
rs137929307
|
0.752 |
0.240 |
19 |
11116928 |
missense variant |
G/A
|
snv
|
4.4E-05
|
4.9E-05
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
18 |
1992 |
2016 |
rs121908029
|
0.763 |
0.200 |
19 |
11105588 |
stop gained |
G/A;C;T
|
snv
|
1.6E-05;
1.6E-05;
8.1E-06
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
15 |
1990 |
2016 |
rs139043155
|
0.790 |
0.200 |
19 |
11106668 |
missense variant |
T/A
|
snv
|
3.2E-05
|
4.2E-05
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
14 |
1992 |
2016 |
rs570942190
|
0.827 |
0.200 |
19 |
11113337 |
missense variant |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
14 |
1997 |
2017 |
rs144614838
|
0.882 |
0.080 |
19 |
11113608 |
missense variant |
G/A;T
|
snv
|
2.8E-05
|
2.8E-05
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
1992 |
2017 |
rs200727689
|
0.851 |
0.120 |
19 |
11105408 |
missense variant |
G/A;C;T
|
snv
|
8.0E-06
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
1997 |
2017 |
rs121908028
|
0.851 |
0.080 |
19 |
11105587 |
missense variant |
C/A;G;T
|
snv
|
8.1E-06;
8.1E-05
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1988 |
2016 |
rs121908030
|
0.851 |
0.080 |
19 |
11107484 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1985 |
2015 |
rs139617694
|
0.851 |
0.080 |
19 |
11113534 |
splice acceptor variant |
G/A;C
|
snv
|
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1995 |
2016 |
rs144172724
|
0.851 |
0.080 |
19 |
11102774 |
stop gained |
G/A;T
|
snv
|
1.6E-05
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1992 |
2015 |
rs201573863
|
0.882 |
0.080 |
19 |
11120478 |
missense variant |
C/T
|
snv
|
2.0E-05
|
9.8E-05
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1995 |
2016 |
rs879254667
|
0.882 |
0.080 |
19 |
11106631 |
missense variant |
A/C
|
snv
|
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
2000 |
2013 |
rs121908026
|
0.851 |
0.160 |
19 |
11105436 |
missense variant |
C/T
|
snv
|
1.6E-05
|
3.5E-05
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
9 |
1989 |
2016 |
rs121908031
|
0.851 |
0.160 |
19 |
11120425 |
stop gained |
C/A;G
|
snv
|
8.0E-06
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
9 |
1987 |
2018 |
rs793888517
|
0.882 |
0.080 |
19 |
11102788 |
splice donor variant |
T/A;C
|
snv
|
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
9 |
1995 |
2016 |
rs137943601
|
0.851 |
0.120 |
19 |
11113313 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1992 |
2015 |
rs28942080
|
0.807 |
0.200 |
19 |
11113743 |
missense variant |
G/A;C;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1990 |
2017 |
rs368657165
|
0.827 |
0.080 |
19 |
11107436 |
stop gained |
G/A;T
|
snv
|
4.0E-05
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1999 |
2016 |
rs730882078
|
0.882 |
0.080 |
19 |
11102714 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1998 |
2013 |
rs730882102
|
0.827 |
0.120 |
19 |
11113590 |
missense variant |
G/A;T
|
snv
|
5.6E-05
|
2.1E-05
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
2008 |
2016 |
rs746118995
|
0.882 |
0.080 |
19 |
11120143 |
missense variant |
C/T
|
snv
|
1.2E-05
|
2.8E-05
|
Familial hypercholesterolemia - homozygous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1997 |
2017 |