rs11549407
|
0.752 |
0.080 |
11 |
5226774 |
stop gained |
G/A;C;T
|
snv
|
3.3E-04
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs334
|
0.724 |
0.240 |
11 |
5227002 |
missense variant |
T/A;C;G
|
snv
|
3.5E-03
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs33915217
|
0.752 |
0.080 |
11 |
5226925 |
splice region variant |
C/A;G;T
|
snv
|
4.0E-06;
5.9E-04;
4.0E-06
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs33941377
|
0.752 |
0.080 |
11 |
5227158 |
5 prime UTR variant |
G/A;C;T
|
snv
|
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs33944208
|
0.752 |
0.080 |
11 |
5227159 |
5 prime UTR variant |
G/A;C;T
|
snv
|
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs33945777
|
0.763 |
0.080 |
11 |
5226576 |
splice donor variant |
C/A;G;T
|
snv
|
4.0E-05
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs33946267
|
0.851 |
0.080 |
11 |
5225678 |
stop gained |
C/A;G;T
|
snv
|
7.0E-04;
1.2E-05
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs33971440
|
0.763 |
0.080 |
11 |
5226929 |
splice donor variant |
C/A;T
|
snv
|
7.2E-05;
9.5E-05
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs33986703
|
0.752 |
0.080 |
11 |
5226970 |
stop gained |
T/A;C;G
|
snv
|
5.6E-05;
3.2E-05
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs34598529
|
0.724 |
0.280 |
11 |
5227100 |
5 prime UTR variant |
T/C
|
snv
|
|
8.9E-04
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs34690599
|
0.763 |
0.080 |
11 |
5225832 |
intron variant |
G/C
|
snv
|
|
2.8E-05
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs35004220
|
0.752 |
0.080 |
11 |
5226820 |
non coding transcript exon variant |
C/T
|
snv
|
1.6E-04
|
9.1E-05
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs35724775
|
0.763 |
0.080 |
11 |
5226924 |
splice region variant |
A/G;T
|
snv
|
1.2E-04
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs63750860
|
1.000 |
0.080 |
11 |
5225654 |
frameshift variant |
CAGC/TGTGG
|
delins
|
|
|
Beta Thalassemia, Dominant Inclusion Body Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|