rs1060499841
|
1.000 |
0.080 |
2 |
21043911 |
frameshift variant |
A/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402762
|
1.000 |
0.080 |
2 |
21043907 |
frameshift variant |
C/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402764
|
1.000 |
0.080 |
2 |
21019101 |
frameshift variant |
T/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402765
|
1.000 |
0.080 |
2 |
21012278 |
frameshift variant |
G/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402766
|
1.000 |
0.080 |
2 |
21004677 |
splice acceptor variant |
T/G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1226992086
|
0.925 |
0.080 |
2 |
21041055 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs12713559
|
0.776 |
0.120 |
2 |
21006196 |
missense variant |
G/A
|
snv
|
3.4E-04
|
5.0E-04
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.030 |
1.000 |
3 |
1997 |
2006 |
rs12720762
|
0.925 |
0.080 |
2 |
21043787 |
intron variant |
C/G
|
snv
|
|
4.8E-03
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1339117465
|
1.000 |
0.080 |
2 |
21002271 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1382988295
|
1.000 |
0.080 |
2 |
21006686 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1418775778
|
1.000 |
0.080 |
2 |
21006144 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs142017360
|
1.000 |
0.080 |
2 |
21012217 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1442815965
|
1.000 |
0.080 |
2 |
21002308 |
stop gained |
G/A;T
|
snv
|
|
7.0E-06
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs144467873
|
0.776 |
0.120 |
2 |
21006289 |
missense variant |
G/A
|
snv
|
1.7E-04
|
6.3E-05
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2012 |
2016 |
rs146377316
|
0.925 |
0.080 |
2 |
21007693 |
missense variant |
G/A;T
|
snv
|
8.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs151009667
|
0.925 |
0.080 |
2 |
21011802 |
missense variant |
C/T
|
snv
|
1.3E-03
|
1.4E-03
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
< 0.001 |
1 |
2019 |
2019 |
rs1553382295
|
1.000 |
0.080 |
2 |
21002202 |
missense variant |
A/G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553382300
|
1.000 |
0.080 |
2 |
21002226 |
missense variant |
T/G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553382319
|
1.000 |
0.080 |
2 |
21002287 |
stop gained |
G/A
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553382325
|
1.000 |
0.080 |
2 |
21002292 |
frameshift variant |
AT/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553382326
|
1.000 |
0.080 |
2 |
21002296 |
stop gained |
G/A
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553385404
|
0.925 |
0.080 |
2 |
21022861 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553385715
|
1.000 |
0.080 |
2 |
21025071 |
frameshift variant |
TT/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs200353509
|
0.882 |
0.120 |
2 |
21035701 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06;
6.0E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
1998 |
1998 |
rs370481987
|
1.000 |
0.080 |
2 |
21006060 |
missense variant |
T/C
|
snv
|
2.0E-05
|
1.4E-05
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|