rs5742904
|
0.689 |
0.280 |
2 |
21006288 |
missense variant |
C/A;T
|
snv
|
2.8E-04
|
7.3E-04
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.900 |
1.000 |
26 |
1989 |
2018 |
rs144467873
|
0.776 |
0.120 |
2 |
21006289 |
missense variant |
G/A
|
snv
|
1.7E-04
|
6.3E-05
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
15 |
1989 |
2017 |
rs1215189537
|
0.925 |
0.080 |
2 |
21007749 |
frameshift variant |
AAAGA/-
|
delins
|
4.0E-06
|
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2007 |
2012 |
rs368825685
|
0.925 |
0.080 |
2 |
21012365 |
stop gained |
A/C;G
|
snv
|
4.0E-06;
1.2E-05
|
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1993 |
2014 |
rs1558560212
|
0.925 |
0.080 |
2 |
21004676 |
splice acceptor variant |
C/G
|
snv
|
|
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1558564161
|
0.925 |
0.080 |
2 |
21010325 |
frameshift variant |
A/-
|
delins
|
|
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1553383017
|
1.000 |
0.080 |
2 |
21006682 |
missense variant |
C/T
|
snv
|
|
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553383473
|
0.925 |
0.080 |
2 |
21009263 |
stop gained |
G/T
|
snv
|
|
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs562574661
|
0.925 |
0.080 |
2 |
21001940 |
inframe deletion |
CTG/-
|
delins
|
|
2.2E-04
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs730880052
|
1.000 |
0.080 |
2 |
21006681 |
missense variant |
G/T
|
snv
|
|
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs766243954
|
0.925 |
0.080 |
2 |
21038086 |
stop gained |
C/A
|
snv
|
|
7.0E-06
|
Hyperlipoproteinemia Type IIb
|
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
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
1997 |
1997 |
rs200222843
|
0.851 |
0.120 |
2 |
21003286 |
missense variant |
G/A
|
snv
|
4.0E-05
|
4.2E-05
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
1989 |
1989 |
rs779283285
|
1.000 |
0.080 |
2 |
21006393 |
missense variant |
A/G
|
snv
|
1.6E-05
|
2.1E-05
|
Hyperlipoproteinemia Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |