Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796051877
rs796051877
GAA
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
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980

2010
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs137852813
rs137852813
SOS1
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
dbSNP: rs1057518345
rs1057518345
ADNP
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1563005360
rs1563005360
FLNC ; FLNC-AS1
GAGG 0.700 CausalMutation CLINVAR

dbSNP: rs1566823361
rs1566823361
FGF14
TG 0.700 GeneticVariation CLINVAR

dbSNP: rs200661329
rs200661329
PIGQ
A 0.700 GeneticVariation CLINVAR

dbSNP: rs373145711
rs373145711
ASXL1
T 0.700 CausalMutation CLINVAR

dbSNP: rs587784105
rs587784105
NSD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs61752129
rs61752129
PEX26
GC 0.700 CausalMutation CLINVAR

dbSNP: rs746800707
rs746800707
AAR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1217691063
rs1217691063
MTHFR
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
dbSNP: rs899127658
rs899127658
F2
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
dbSNP: rs3729856
rs3729856
GATA4
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