rs1555397194
|
0.925 |
0.160 |
15 |
48468409 |
splice donor variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs1555394138
|
1.000 |
0.160 |
15 |
48420692 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555394151
|
1.000 |
0.160 |
15 |
48420776 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555394407
|
0.925 |
0.160 |
15 |
48425450 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555394925
|
1.000 |
0.160 |
15 |
48432948 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555395653
|
1.000 |
0.160 |
15 |
48444616 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555395670
|
1.000 |
0.160 |
15 |
48444658 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555395757
|
1.000 |
0.160 |
15 |
48445435 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555396199
|
1.000 |
0.160 |
15 |
48452607 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555399160
|
1.000 |
0.160 |
15 |
48495213 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555399379
|
0.925 |
0.160 |
15 |
48497345 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555404800
|
1.000 |
0.160 |
15 |
48596289 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555405042
|
0.925 |
0.160 |
15 |
48600174 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1566909483
|
0.925 |
0.160 |
15 |
48487342 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397515779
|
1.000 |
0.160 |
15 |
48494240 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397515867
|
1.000 |
0.160 |
15 |
48526159 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs794728321
|
1.000 |
0.160 |
15 |
48412640 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs869025426
|
1.000 |
0.160 |
15 |
48463947 |
frameshift variant |
-/A
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs886043709
|
0.925 |
0.160 |
15 |
48448844 |
frameshift variant |
-/AC
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555405664
|
1.000 |
0.160 |
15 |
48613053 |
inframe insertion |
-/ACA
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555398622
|
1.000 |
0.160 |
15 |
48488126 |
frameshift variant |
-/ATCA
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs193922225
|
1.000 |
0.160 |
15 |
48434653 |
frameshift variant |
-/ATCA
|
delins
|
4.0E-06;
4.0E-06
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1566895225
|
1.000 |
0.160 |
15 |
48434596 |
frameshift variant |
-/C
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1060501067
|
0.925 |
0.160 |
15 |
48415705 |
frameshift variant |
-/C
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555394206
|
1.000 |
0.160 |
15 |
48421648 |
frameshift variant |
-/C
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|