rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.810 |
1.000 |
10 |
2001 |
2013 |
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 |
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 |
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 |
rs121908185
|
1.000 |
0.120 |
1 |
25813890 |
missense variant |
G/A
|
snv
|
4.8E-05
|
6.3E-05
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2001 |
2009 |
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 |
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 |
rs776738184
|
1.000 |
0.120 |
1 |
25809688 |
missense variant |
A/G
|
snv
|
8.0E-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 |
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Congenital Fiber Type Disproportion
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.810 |
1.000 |
5 |
2002 |
2013 |
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 |
rs773670891
|
1.000 |
0.120 |
1 |
25802115 |
splice donor variant |
GAGT/-
|
delins
|
1.1E-04
|
3.2E-04
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2011 |
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 |
rs199564797
|
0.742 |
0.360 |
1 |
25809150 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
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 |
rs377215510
|
1.000 |
0.120 |
1 |
25812720 |
stop gained |
C/G;T
|
snv
|
2.8E-05
|
|
Eichsfeld type congenital muscular dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
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 |
rs756927098
|
1.000 |
0.120 |
1 |
25813898 |
missense variant |
C/T
|
snv
|
8.0E-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 |
1 |
2009 |
2009 |
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
EMG: myopathic abnormalities
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Pulmonary Embolism
|
Respiratory Tract Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Decreased tendon reflex
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Velopharyngeal Insufficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121908188
|
0.742 |
0.360 |
1 |
25809753 |
missense variant |
G/A;C
|
snv
|
1.8E-04
|
|
Myopathy
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|