rs1555367892
|
0.882 |
0.160 |
14 |
94378633 |
frameshift variant |
TG/-
|
del
|
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057516555
|
1.000 |
0.160 |
14 |
94383237 |
start lost |
T/C
|
snv
|
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1555367891
|
0.882 |
0.160 |
14 |
94378633 |
missense variant |
T/C
|
snv
|
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs17580
|
0.776 |
0.160 |
14 |
94380925 |
missense variant |
T/A
|
snv
|
2.3E-02
|
2.9E-02
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.750 |
1.000 |
17 |
1989 |
2019 |
rs121912714
|
0.882 |
0.160 |
14 |
94380949 |
missense variant |
T/A
|
snv
|
4.7E-04
|
3.3E-04
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
7 |
1989 |
2011 |
rs199422211
|
0.882 |
0.160 |
14 |
94381067 |
stop gained |
T/A
|
snv
|
1.6E-05
|
7.0E-06
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
4 |
1988 |
2008 |
rs1555369299
|
0.882 |
0.160 |
14 |
94383237 |
start lost |
T/-
|
delins
|
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1555367896
|
0.882 |
0.160 |
14 |
94378640 |
splice donor variant |
GGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCACCT/-
|
delins
|
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs864622043
|
1.000 |
0.160 |
14 |
94378591 |
frameshift variant |
GCAGCTTC/TGTTTTT
|
delins
|
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
4 |
1989 |
2016 |
rs762321137
|
1.000 |
0.160 |
14 |
94383052 |
stop gained |
G/T
|
snv
|
4.0E-06
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs61761869
|
1.000 |
0.160 |
14 |
94378529 |
missense variant |
G/A;T
|
snv
|
2.9E-04
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
12 |
1989 |
2016 |
rs199422209
|
0.882 |
0.160 |
14 |
94378528 |
missense variant |
G/A;C;T
|
snv
|
4.8E-05;
1.2E-05;
3.2E-05
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
7 |
1989 |
2016 |
rs199422210
|
1.000 |
0.160 |
14 |
94382686 |
stop gained |
G/A;C;T
|
snv
|
1.9E-04;
1.6E-05;
4.0E-06
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
4 |
1987 |
2008 |
rs864622051
|
1.000 |
0.160 |
14 |
94382700 |
stop gained |
G/A;C
|
snv
|
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs28931570
|
0.882 |
0.160 |
14 |
94383051 |
missense variant |
G/A
|
snv
|
1.1E-03
|
1.5E-03
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
11 |
1987 |
2016 |
rs55819880
|
0.882 |
0.160 |
14 |
94383008 |
missense variant |
G/A
|
snv
|
1.4E-04
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
6 |
1991 |
2011 |
rs764325655
|
0.882 |
0.160 |
14 |
94378548 |
frameshift variant |
G/-;GG
|
delins
|
|
4.2E-05
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
4 |
1994 |
2011 |
rs1057516448
|
1.000 |
0.160 |
14 |
94381074 |
frameshift variant |
G/-
|
delins
|
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs267606950
|
0.882 |
0.160 |
14 |
94382686 |
frameshift variant |
G/-
|
del
|
|
1.4E-05
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs28931568
|
0.882 |
0.160 |
14 |
94382966 |
missense variant |
C/T
|
snv
|
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
2 |
1990 |
2004 |
rs11558261
|
0.882 |
0.160 |
14 |
94382823 |
missense variant |
C/T
|
snv
|
9.1E-05
|
3.5E-05
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.710 |
1.000 |
1 |
1990 |
1990 |
rs28929474
|
0.708 |
0.320 |
14 |
94378610 |
missense variant |
C/G;T
|
snv
|
2.8E-05;
1.1E-02
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
57 |
1982 |
2019 |
rs764220898
|
1.000 |
0.160 |
14 |
94381043 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
1.2E-05
|
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
2 |
2009 |
2011 |
rs113817720
|
1.000 |
0.160 |
14 |
94382994 |
missense variant |
C/G;T
|
snv
|
1.4E-04
|
1.1E-04
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1445192595
|
1.000 |
0.160 |
14 |
94381134 |
stop gained |
C/A;T
|
snv
|
|
7.0E-06
|
alpha 1-Antitrypsin Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |