rs1013147010
|
1.000 |
0.080 |
19 |
11105492 |
missense variant |
C/A
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516127
|
0.925 |
0.080 |
19 |
11123200 |
stop gained |
G/T
|
snv
|
|
7.0E-06
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516132
|
0.925 |
0.080 |
19 |
11105245 |
frameshift variant |
TTTCG/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516134
|
0.925 |
0.080 |
19 |
11120123 |
frameshift variant |
A/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516135
|
0.925 |
0.080 |
19 |
11105372 |
frameshift variant |
A/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057519661
|
0.882 |
0.080 |
19 |
11105587 |
frameshift variant |
C/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
1 |
2000 |
2000 |
rs1057519667
|
0.851 |
0.120 |
19 |
11113277 |
splice acceptor variant |
G/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057519669
|
0.925 |
0.080 |
19 |
11113347 |
missense variant |
A/G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057519670
|
0.925 |
0.080 |
19 |
11113406 |
missense variant |
A/T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057519673
|
0.925 |
0.080 |
19 |
11113705 |
frameshift variant |
C/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057519677
|
0.925 |
0.080 |
19 |
11120099 |
missense variant |
T/G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057519682
|
0.925 |
0.080 |
19 |
11120458 |
frameshift variant |
-/A
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1060500986
|
1.000 |
0.080 |
19 |
11111628 |
missense variant |
G/A
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1060500987
|
1.000 |
0.080 |
19 |
11113360 |
frameshift variant |
C/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1060500988
|
1.000 |
0.080 |
19 |
11120383 |
frameshift variant |
T/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1064792905
|
0.925 |
0.080 |
19 |
11105587 |
inframe deletion |
AGGAAAACTGCG/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs112029328
|
0.882 |
0.080 |
19 |
11102787 |
splice donor variant |
G/A;C;T
|
snv
|
2.8E-05;
4.0E-06;
4.0E-06;
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
17 |
1994 |
2015 |
rs112366278
|
0.925 |
0.080 |
19 |
11110650 |
splice acceptor variant |
A/C;G;T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2010 |
rs112954220
|
1.000 |
0.080 |
19 |
11120470 |
stop gained |
C/A;G;T
|
snv
|
2.8E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
2002 |
2013 |
rs1131692189
|
1.000 |
0.080 |
19 |
11100271 |
missense variant |
G/T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692190
|
1.000 |
0.080 |
19 |
11100350 |
splice region variant |
G/A
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692191
|
1.000 |
0.080 |
19 |
11102724 |
frameshift variant |
-/CATTCTG
|
ins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692192
|
1.000 |
0.080 |
19 |
11105223 |
frameshift variant |
CAAGACGTGCTCCCAGGAC/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692193
|
1.000 |
0.080 |
19 |
11105424 |
stop gained |
CGAAGATGGCTCGG/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692194
|
1.000 |
0.080 |
19 |
11105434 |
synonymous variant |
C/T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|