rs80338792
|
0.827 |
0.160 |
17 |
63943846 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.820 |
1.000 |
15 |
1994 |
2016 |
rs121908552
|
0.763 |
0.160 |
17 |
63964587 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.810 |
0.933 |
15 |
1994 |
2016 |
rs121908559
|
0.925 |
0.120 |
17 |
63941854 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
13 |
1994 |
2016 |
rs121908547
|
0.790 |
0.160 |
17 |
63943825 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
1994 |
1994 |
rs121908549
|
0.925 |
0.120 |
17 |
63945602 |
missense variant |
T/C
|
snv
|
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1994 |
2016 |
rs121908560
|
1.000 |
0.120 |
17 |
63944694 |
missense variant |
G/T
|
snv
|
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1994 |
2016 |
rs121908561
|
0.925 |
0.120 |
17 |
63972197 |
missense variant |
T/C
|
snv
|
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1994 |
2016 |
rs372631097
|
1.000 |
0.120 |
17 |
63964566 |
stop gained |
C/A;T
|
snv
|
8.8E-05
|
5.6E-05
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1994 |
2016 |
rs749400108
|
1.000 |
0.120 |
17 |
63957395 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1994 |
2016 |
rs764718003
|
1.000 |
0.120 |
17 |
63971192 |
missense variant |
G/A
|
snv
|
3.4E-05
|
1.4E-05
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1994 |
2016 |
rs80338958
|
0.790 |
0.200 |
17 |
63945614 |
missense variant |
C/A;T
|
snv
|
1.6E-05;
5.6E-05
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1994 |
2016 |
rs121908546
|
0.882 |
0.120 |
17 |
63951866 |
missense variant |
G/A;C
|
snv
|
6.1E-06
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908548
|
0.851 |
0.160 |
17 |
63941517 |
missense variant |
C/T
|
snv
|
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs527236148
|
0.790 |
0.160 |
17 |
63971201 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80338957
|
0.776 |
0.160 |
17 |
63957427 |
missense variant |
G/A
|
snv
|
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80338962
|
0.742 |
0.240 |
17 |
63941508 |
missense variant |
T/C
|
snv
|
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886041805
|
0.790 |
0.160 |
17 |
63941506 |
missense variant |
C/A;T
|
snv
|
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs914586984
|
1.000 |
0.120 |
17 |
63959275 |
missense variant |
G/C;T
|
snv
|
|
|
Potassium aggravated myotonia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|