rs1557315928
|
|
|
X |
32380517 |
stop gained |
C/T
|
snv
|
|
|
Abnormal muscle fiber dystrophin expression
|
|
0.700 |
|
0 |
|
|
rs1261007995
|
1.000 |
0.080 |
X |
31507391 |
synonymous variant |
T/C
|
snv
|
5.5E-06
|
|
Amyotrophic Lateral Sclerosis
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1391274976
|
1.000 |
0.080 |
X |
31774029 |
synonymous variant |
T/C
|
snv
|
|
9.7E-06
|
Amyotrophic Lateral Sclerosis
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs6631478
|
|
|
X |
32074263 |
intron variant |
T/C
|
snv
|
|
0.26
|
Ankle brachial pressure index (observable entity)
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs886042604
|
1.000 |
0.120 |
X |
33020138 |
splice donor variant |
C/G;T
|
snv
|
|
|
Atrial Septal Defects
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs373286166
|
0.882 |
0.160 |
X |
32573529 |
splice donor variant |
C/T
|
snv
|
1.6E-05
|
2.8E-05
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2007 |
2016 |
rs398122853
|
0.882 |
0.160 |
X |
33211304 |
stop gained |
C/T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
3 |
2009 |
2017 |
rs794726993
|
0.882 |
0.160 |
X |
32645020 |
stop gained |
G/A;C
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2009 |
2017 |
rs267606771
|
1.000 |
0.120 |
X |
32448611 |
stop gained |
C/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
1997 |
1997 |
rs398123909
|
0.882 |
0.160 |
X |
32472310 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs749989940
|
1.000 |
0.120 |
X |
32545253 |
missense variant |
C/T
|
snv
|
5.5E-06
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs104894787
|
0.882 |
0.160 |
X |
31178784 |
stop gained |
G/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1280415176
|
1.000 |
0.120 |
X |
32645113 |
missense variant |
A/T
|
snv
|
1.1E-05
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs128626236
|
1.000 |
0.120 |
X |
32816495 |
missense variant |
G/T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs128626237
|
1.000 |
0.120 |
X |
32699252 |
missense variant |
A/T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs128627256
|
0.882 |
0.160 |
X |
31478330 |
stop gained |
G/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556880354
|
0.925 |
0.120 |
X |
31774193 |
splice acceptor variant |
C/T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557047827
|
0.925 |
0.120 |
X |
32809512 |
frameshift variant |
C/-
|
del
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557380616
|
0.925 |
0.120 |
X |
32485053 |
stop gained |
A/T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569546198
|
1.000 |
0.120 |
X |
31479104 |
splice acceptor variant |
C/G
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569564916
|
1.000 |
0.120 |
X |
32501752 |
splice region variant |
T/A;G
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1800279
|
1.000 |
0.120 |
X |
31478281 |
missense variant |
T/C
|
snv
|
2.6E-02
|
2.2E-02
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs182575709
|
0.925 |
0.120 |
X |
32461403 |
intron variant |
T/C;G
|
snv
|
|
5.7E-03
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs201217593
|
0.790 |
0.200 |
X |
31177947 |
stop gained |
C/T
|
snv
|
2.2E-05
|
2.9E-05
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398123832
|
0.882 |
0.160 |
X |
31178721 |
stop gained |
G/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|