rs41264945
|
|
|
1 |
155670324 |
missense variant |
C/T
|
snv
|
3.6E-02
|
3.5E-02
|
Body Height
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1396616608
|
1.000 |
0.080 |
1 |
155660237 |
frameshift variant |
G/-
|
delins
|
|
7.0E-06
|
Ischemic stroke
|
Nervous System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs766981144
|
1.000 |
0.080 |
1 |
155668643 |
missense variant |
G/A
|
snv
|
1.6E-05
|
|
Ischemic stroke
|
Nervous System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs1057519597
|
1.000 |
0.120 |
1 |
155659934 |
stop gained |
A/C;T
|
snv
|
|
|
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057519598
|
1.000 |
0.120 |
1 |
155659923 |
stop gained |
C/A
|
snv
|
|
|
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057519599
|
1.000 |
0.120 |
1 |
155676622 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1558307853
|
1.000 |
0.120 |
1 |
155672537 |
non coding transcript exon variant |
A/C
|
snv
|
|
|
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs199653824
|
1.000 |
0.120 |
1 |
155672732 |
splice acceptor variant |
C/T
|
snv
|
1.2E-05
|
|
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs749232831
|
1.000 |
0.120 |
1 |
155676562 |
stop gained |
G/A;C
|
snv
|
4.0E-06;
8.0E-06
|
|
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs759089960
|
1.000 |
0.120 |
1 |
155660418 |
frameshift variant |
CAGA/-
|
delins
|
8.0E-06
|
|
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|