rs60376624
|
1.000 |
0.160 |
5 |
132392565 |
missense variant |
C/G
|
snv
|
1.7E-04
|
8.4E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
7 |
1999 |
2012 |
rs151231558
|
1.000 |
0.160 |
5 |
132378408 |
missense variant |
G/A;T
|
snv
|
1.2E-05;
5.6E-05
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
25 |
1990 |
2019 |
rs202088921
|
1.000 |
0.160 |
5 |
132370108 |
missense variant |
C/G;T
|
snv
|
4.5E-04
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
24 |
1999 |
2017 |
rs72552725
|
0.882 |
0.280 |
5 |
132370067 |
missense variant |
A/G
|
snv
|
2.4E-05
|
2.1E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
24 |
1999 |
2017 |
rs72552726
|
1.000 |
0.160 |
5 |
132370220 |
missense variant |
G/T
|
snv
|
2.7E-04
|
3.5E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
23 |
1999 |
2017 |
rs121908890
|
1.000 |
0.160 |
5 |
132384154 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
22 |
1999 |
2017 |
rs72552732
|
1.000 |
0.160 |
5 |
132392484 |
missense variant |
C/T
|
snv
|
1.2E-05
|
4.2E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
22 |
1999 |
2017 |
rs749282641
|
1.000 |
0.160 |
5 |
132392576 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
22 |
1999 |
2017 |
rs121908889
|
1.000 |
0.160 |
5 |
132384155 |
missense variant |
G/A
|
snv
|
4.4E-05
|
2.8E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
21 |
1999 |
2017 |
rs267607054
|
1.000 |
0.160 |
5 |
132390832 |
missense variant |
C/T
|
snv
|
1.2E-04
|
2.1E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
21 |
1999 |
2017 |
rs386134218
|
1.000 |
0.160 |
5 |
132392505 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
21 |
1999 |
2017 |
rs386134221
|
1.000 |
0.160 |
5 |
132392568 |
missense variant |
C/A;G
|
snv
|
4.0E-06;
8.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
20 |
1999 |
2017 |
rs144547521
|
1.000 |
0.160 |
5 |
132390830 |
missense variant |
C/T
|
snv
|
8.0E-05
|
6.3E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1999 |
2017 |
rs185551386
|
1.000 |
0.160 |
5 |
132385355 |
missense variant |
G/A
|
snv
|
6.0E-05
|
3.5E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1999 |
2017 |
rs201082652
|
1.000 |
0.160 |
5 |
132370336 |
missense variant |
G/A;T
|
snv
|
3.8E-04
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1999 |
2017 |
rs386134210
|
1.000 |
0.160 |
5 |
132387045 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1999 |
2017 |
rs72552734
|
1.000 |
0.160 |
5 |
132392519 |
missense variant |
G/A
|
snv
|
2.8E-05
|
1.4E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1999 |
2017 |
rs121908888
|
1.000 |
0.160 |
5 |
132384281 |
missense variant |
A/G
|
snv
|
8.0E-06
|
7.0E-06
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1999 |
2017 |
rs121908891
|
1.000 |
0.160 |
5 |
132390833 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.1E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1999 |
2017 |
rs267607052
|
1.000 |
0.160 |
5 |
132370015 |
missense variant |
G/T
|
snv
|
9.6E-05
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1999 |
2017 |
rs267607053
|
1.000 |
0.160 |
5 |
132392489 |
missense variant |
GC/AT
|
mnv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1999 |
2017 |
rs68018207
|
1.000 |
0.160 |
5 |
132389020 |
stop lost |
T/C
|
snv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1999 |
2017 |
rs72552735
|
1.000 |
0.160 |
5 |
132392598 |
missense variant |
C/T
|
snv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1999 |
2017 |
rs11568520
|
1.000 |
0.160 |
5 |
132370023 |
missense variant |
C/G
|
snv
|
1.2E-04
|
4.9E-05
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
5 |
2006 |
2014 |
rs28383481
|
1.000 |
0.160 |
5 |
132393688 |
missense variant |
G/A
|
snv
|
3.2E-03
|
3.4E-03
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
|
0 |
|
|