rs562574661
|
0.925 |
0.080 |
2 |
21001940 |
inframe deletion |
CTG/-
|
delins
|
|
2.2E-04
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs771015234
|
1.000 |
0.080 |
2 |
21002254 |
missense variant |
C/A;G
|
snv
|
8.0E-06;
8.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs886039829
|
1.000 |
0.080 |
2 |
21002264 |
frameshift variant |
T/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs61744153
|
1.000 |
0.080 |
2 |
21005391 |
missense variant |
G/A;T
|
snv
|
1.7E-03
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs61744288
|
1.000 |
0.080 |
2 |
21006088 |
missense variant |
A/C;G;T
|
snv
|
6.4E-04
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs747606537
|
1.000 |
0.080 |
2 |
21006100 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs762028704
|
1.000 |
0.080 |
2 |
21006129 |
missense variant |
T/C
|
snv
|
1.6E-05
|
3.5E-05
|
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 |
|
|
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 |
rs5742904
|
0.689 |
0.280 |
2 |
21006288 |
missense variant |
C/A;T
|
snv
|
2.8E-04
|
7.3E-04
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
22 |
1989 |
2017 |
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 |
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 |
|
|
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 |
|
|
rs693
|
0.708 |
0.440 |
2 |
21009323 |
synonymous variant |
G/A
|
snv
|
0.39
|
0.38
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
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 |
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 |
|
|