rs397515866
|
1.000 |
0.160 |
15 |
48411000 |
frameshift variant |
AA/-
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397515865
|
1.000 |
0.160 |
15 |
48411006 |
missense variant |
T/G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501033
|
0.925 |
0.160 |
15 |
48411045 |
frameshift variant |
A/-
|
del
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs794728323
|
1.000 |
0.160 |
15 |
48411062 |
frameshift variant |
TT/-;T;TTT
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393508
|
1.000 |
0.160 |
15 |
48411070 |
stop gained |
C/A;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393510
|
1.000 |
0.160 |
15 |
48411076 |
stop gained |
G/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1064794130
|
1.000 |
0.160 |
15 |
48411077 |
frameshift variant |
AAGTT/-
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587782948
|
1.000 |
0.160 |
15 |
48411085 |
stop gained |
C/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs886038795
|
0.925 |
0.160 |
15 |
48411118 |
stop gained |
G/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs397515864
|
1.000 |
0.160 |
15 |
48411123 |
stop gained |
G/C
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393525
|
1.000 |
0.160 |
15 |
48411127 |
frameshift variant |
A/-
|
del
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727504454
|
1.000 |
0.160 |
15 |
48411131 |
inframe deletion |
TCC/-
|
del
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393532
|
0.925 |
0.160 |
15 |
48411159 |
missense variant |
T/C;G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393538
|
1.000 |
0.160 |
15 |
48411189 |
frameshift variant |
-/T
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs193922246
|
1.000 |
0.160 |
15 |
48411189 |
inframe deletion |
TTTTAA/-
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs869025417
|
1.000 |
0.160 |
15 |
48411267 |
missense variant |
A/G
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs1555393551
|
0.925 |
0.160 |
15 |
48411271 |
stop gained |
C/A
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs1566888689
|
0.925 |
0.160 |
15 |
48411277 |
frameshift variant |
T/-
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs137854466
|
0.724 |
0.320 |
15 |
48411280 |
stop gained |
G/A;C
|
snv
|
4.0E-05;
8.0E-06
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1994 |
2002 |
rs267606796
|
1.000 |
0.160 |
15 |
48411338 |
stop gained |
C/T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397515861
|
1.000 |
0.160 |
15 |
48411339 |
stop gained |
C/T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
1992 |
1992 |
rs727504651
|
1.000 |
0.160 |
15 |
48411340 |
frameshift variant |
AA/TCCT
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555393565
|
1.000 |
0.160 |
15 |
48411352 |
frameshift variant |
-/CA
|
delins
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs193922243
|
0.925 |
0.160 |
15 |
48412564 |
splice region variant |
C/A;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs398122833
|
0.882 |
0.160 |
15 |
48412568 |
splice donor variant |
C/A;T
|
snv
|
|
|
Marfan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |