rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of our study was to evaluate the frequency of the C677T variant in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with migraine with or without aura and to find an association between this variant and vascular lesions in magnetic resonance imaging of the head, presence of patent foramen ovale (PFO) and increased level of homocysteine.
|
23161188 |
2013 |
rs3729856
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, the common GATA4 variant S377G is likely to be relatively benign in terms of its participation in CHD and PFO/Stroke.
|
21673957 |
2011 |
rs899127658
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic polymorphisms of haemostatic factors such as G1691A factor V (FV Leiden) and G20210A prothrombin (FII) may be involved in the onset of patent foramen ovale (PFO)-related cerebral ischaemia.
|
22909823 |
2012 |
rs200661329
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587784105
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs746800707
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs796051877
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.
|
26160551 |
2015 |
rs1057518345
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554700718
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
|
20683980 |
2010 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
|
19953625 |
2010 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
|
21387466 |
2011 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
|
17586837 |
2007 |
rs1563005360
|
|
GAGG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs61752129
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs373145711
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1566823361
|
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|