rs112638391
|
1.000 |
0.160 |
2 |
237374900 |
missense variant |
C/T
|
snv
|
3.0E-03
|
3.0E-03
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs113155945
|
1.000 |
0.080 |
2 |
237378714 |
missense variant |
C/T
|
snv
|
2.6E-02
|
1.1E-02
|
Liver carcinoma
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs114284669
|
1.000 |
0.120 |
2 |
237376802 |
missense variant |
T/C;G
|
snv
|
2.1E-04
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Carcinoma of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Esophageal carcinoma
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Primary malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Malignant neoplasm of esophagus
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs115510139
|
0.827 |
0.120 |
2 |
237331726 |
intron variant |
A/T
|
snv
|
|
0.60
|
Esophageal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs11903206
|
1.000 |
0.120 |
2 |
237336278 |
missense variant |
G/A
|
snv
|
3.9E-03
|
1.4E-02
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1998 |
2007 |
rs121434553
|
1.000 |
0.120 |
2 |
237367151 |
missense variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs121434554
|
1.000 |
0.160 |
2 |
237381419 |
stop gained |
G/A
|
snv
|
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121434555
|
1.000 |
0.120 |
2 |
237367010 |
missense variant |
A/C
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs1230578718
|
1.000 |
0.120 |
2 |
237380914 |
splice donor variant |
C/A
|
snv
|
|
7.0E-06
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2010 |
rs1268762655
|
1.000 |
0.120 |
2 |
237350173 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1994 |
2013 |
rs13032404
|
0.882 |
0.080 |
2 |
237324840 |
intron variant |
G/A
|
snv
|
0.29
|
0.26
|
Primary malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs13032404
|
0.882 |
0.080 |
2 |
237324840 |
intron variant |
G/A
|
snv
|
0.29
|
0.26
|
Malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs13032404
|
0.882 |
0.080 |
2 |
237324840 |
intron variant |
G/A
|
snv
|
0.29
|
0.26
|
Carcinoma of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs138049094
|
1.000 |
0.120 |
2 |
237369064 |
missense variant |
T/C
|
snv
|
5.1E-04
|
3.0E-04
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1998 |
2010 |
rs139260335
|
1.000 |
0.120 |
2 |
237344571 |
missense variant |
T/C
|
snv
|
6.1E-04
|
5.6E-04
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs146092501
|
1.000 |
0.120 |
2 |
237371861 |
missense variant |
C/T
|
snv
|
6.2E-03
|
5.9E-03
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1998 |
2007 |
rs1553553267
|
1.000 |
0.120 |
2 |
237359235 |
splice acceptor variant |
TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT/-
|
delins
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2010 |
rs1553553313
|
1.000 |
0.120 |
2 |
237359334 |
splice acceptor variant |
TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC/-
|
del
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553553646
|
1.000 |
0.120 |
2 |
237360140 |
missense variant |
C/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1994 |
2013 |
rs1553561409
|
1.000 |
0.120 |
2 |
237377222 |
stop gained |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|