rs727504433
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs727504434
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs727504581
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs730880355
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs878854452
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137854452
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
|
9215670 |
1997 |
rs397516433
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
|
9215670 |
1997 |
rs727503027
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
|
9215670 |
1997 |
rs727503030
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
|
9215670 |
1997 |
rs727503783
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.
|
9215671 |
1997 |
rs397516433
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts.
|
10190324 |
1999 |
rs137854452
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Elastin: mutational spectrum in supravalvular aortic stenosis.
|
11175284 |
2000 |
rs1554672602
|
|
AG |
0.700 |
CausalMutation |
CLINVAR |
Elastin: mutational spectrum in supravalvular aortic stenosis.
|
11175284 |
2000 |
rs1563793627
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Elastin: mutational spectrum in supravalvular aortic stenosis.
|
11175284 |
2000 |
rs727503030
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Elastin: mutational spectrum in supravalvular aortic stenosis.
|
11175284 |
2000 |
rs397516433
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Domains 16 and 17 of tropoelastin in elastic fibre formation.
|
17037986 |
2007 |
rs863223518
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema.
|
22740173 |
2012 |