rs121908182
|
1.000 |
0.120 |
1 |
25809096 |
missense variant |
G/A
|
snv
|
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2001 |
2010 |
rs121908187
|
1.000 |
0.120 |
1 |
25812789 |
missense variant |
T/G
|
snv
|
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2001 |
2009 |
rs368104077
|
1.000 |
0.120 |
1 |
25808753 |
frameshift variant |
-/A
|
delins
|
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2002 |
2017 |
rs1174570887
|
1.000 |
0.120 |
1 |
25800232 |
start lost |
T/A;C;G
|
snv
|
|
7.4E-06
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2002 |
2013 |
rs121908184
|
1.000 |
0.120 |
1 |
25800231 |
start lost |
A/G
|
snv
|
|
4.5E-05
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2002 |
2013 |
rs11247735
|
1.000 |
0.080 |
1 |
25804968 |
intron variant |
G/A;C
|
snv
|
|
|
Rectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs2072749
|
1.000 |
0.080 |
1 |
25804530 |
intron variant |
T/C
|
snv
|
|
0.23
|
Rectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs4659382
|
1.000 |
0.080 |
1 |
25808435 |
intron variant |
C/A;G
|
snv
|
|
|
Rectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs718391
|
1.000 |
0.080 |
1 |
25799343 |
upstream gene variant |
C/G
|
snv
|
|
0.54
|
Rectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1553120047
|
1.000 |
0.120 |
1 |
25808707 |
stop gained |
G/A
|
snv
|
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553120202
|
1.000 |
0.120 |
1 |
25809731 |
stop gained |
G/A
|
snv
|
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553198464
|
1.000 |
0.080 |
1 |
25800218 |
start lost |
AGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCC/-
|
delins
|
|
|
Congenital Fiber Type Disproportion
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553198611
|
1.000 |
0.120 |
1 |
25801105 |
frameshift variant |
-/GG
|
delins
|
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557814050
|
1.000 |
0.120 |
1 |
25800396 |
stop gained |
C/T
|
snv
|
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587776597
|
1.000 |
0.120 |
1 |
25812790 |
stop gained |
G/A
|
snv
|
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797044621
|
1.000 |
0.120 |
1 |
25800233 |
frameshift variant |
-/CGGCCGGGCC
|
delins
|
|
7.3E-05
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045950
|
1.000 |
0.080 |
1 |
25809104 |
protein altering variant |
-/CCT
|
delins
|
|
|
Congenital Fiber Type Disproportion
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs779162837
|
1.000 |
0.120 |
1 |
25813899 |
missense variant |
G/A;T
|
snv
|
1.6E-05;
4.0E-06
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2001 |
2010 |
rs749911126
|
1.000 |
0.120 |
1 |
25811462 |
missense variant |
A/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2009 |
rs121908186
|
1.000 |
0.120 |
1 |
25812763 |
missense variant |
G/C
|
snv
|
4.0E-06
|
7.0E-06
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2001 |
2010 |
rs745886248
|
0.742 |
0.360 |
1 |
25811710 |
missense variant |
G/A;C;T
|
snv
|
4.3E-06;
4.3E-06;
4.3E-06
|
|
Congenital Fiber Type Disproportion
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs745886248
|
0.742 |
0.360 |
1 |
25811710 |
missense variant |
G/A;C;T
|
snv
|
4.3E-06;
4.3E-06;
4.3E-06
|
|
Gastroparesis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs745886248
|
0.742 |
0.360 |
1 |
25811710 |
missense variant |
G/A;C;T
|
snv
|
4.3E-06;
4.3E-06;
4.3E-06
|
|
Limited knee flexion/extension
|
|
0.700 |
|
0 |
|
|
rs745886248
|
0.742 |
0.360 |
1 |
25811710 |
missense variant |
G/A;C;T
|
snv
|
4.3E-06;
4.3E-06;
4.3E-06
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs745886248
|
0.742 |
0.360 |
1 |
25811710 |
missense variant |
G/A;C;T
|
snv
|
4.3E-06;
4.3E-06;
4.3E-06
|
|
EMG: myopathic abnormalities
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|