rs2143417
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Initial analysis identified significant associations between SNP rs2143417 and rs689466 in cyclooxygenase 2 (COX-2) and CCA risk, after adjusting for multiple comparisons (cutoff of P = 0.0028).
|
26276523 |
2015 |
rs1465262924
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The second is a homozygous missense mutation in codon 222 [CCA (Pro) --> ACT (Thr) = P222T] in the gene identified from a female neonate with salt-wasting disorder.
|
12050213 |
2002 |
rs1057519320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1206843725
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
|
27196565 |
2016 |
rs1206843725
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Fibrillin-1 misfolding and disease.
|
16677079 |
2006 |
rs1206843725
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.
|
9714438 |
1998 |
rs1206843725
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.
|
25834781 |
2015 |
rs1206843725
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The solution structure of human epidermal growth factor.
|
3495735 |
1987 |
rs1206843725
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1206843725
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
rs1206843725
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
|
7493032 |
1995 |
rs1206843725
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
|
18767143 |
2009 |
rs1206843725
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.
|
9737771 |
1998 |
rs1206843725
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
|
11754102 |
2002 |
rs1206843725
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
|
19006240 |
2009 |
rs1206843725
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.
|
10797416 |
2000 |
rs1206843725
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
|
20799338 |
2010 |
rs1206843725
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Epidermal growth factor. Location of disulfide bonds.
|
4750422 |
1973 |
rs137852825
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
|
19006240 |
2009 |
rs137852825
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.
|
9737771 |
1998 |
rs137852825
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
rs137852825
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.
|
25834781 |
2015 |
rs137852825
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
|
7493032 |
1995 |
rs137852825
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.
|
9714438 |
1998 |
rs137852825
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
|
27196565 |
2016 |