rs1052480459
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1052480459
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518881
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
rs1057518881
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
|
17701892 |
2007 |
rs1057518881
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.
|
28973303 |
2017 |
rs1057518881
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.
|
16905551 |
2006 |
rs1057518881
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
|
27611364 |
2016 |
rs1057518881
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
|
24501682 |
2013 |
rs1057518881
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.
|
19349279 |
2009 |
rs1057518912
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519502
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057520131
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A C596G mutation in FBN1 was identified in a Chinese family with MFS.
|
25729264 |
2015 |
rs1057520617
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057520728
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057521102
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057521102
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.
|
19349279 |
2009 |
rs1057521102
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
|
19293843 |
2009 |
rs1057521102
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
rs1057521102
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.
|
16905551 |
2006 |
rs1057521102
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
|
17701892 |
2007 |
rs1057521102
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057523406
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057524458
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta.
|
10930463 |
2000 |
rs1057524458
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
|
27437668 |
2016 |