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rs878854610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 7 Loeys-Dietz Syndrome
Make rs878854610(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position30674121
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs878854610
dbSNP (classic)rs878854610
ClinGenrs878854610
ebirs878854610
HLIrs878854610
Exacrs878854610
Gnomadrs878854610
Varsomers878854610
LitVarrs878854610
Maprs878854610
PheGenIrs878854610
Biobankrs878854610
1000 genomesrs878854610
hgdprs878854610
ensemblrs878854610
geneviewrs878854610
scholarrs878854610
googlers878854610
pharmgkbrs878854610
gwascentralrs878854610
openSNPrs878854610
23andMers878854610
SNPshotrs878854610
SNPdbers878854610
MSV3drs878854610
GWAS Ctlgrs878854610
Max Magnitude7
ClinVar
Risk rs878854610(G;G) rs878854610(T;T)
Alt rs878854610(G;G) rs878854610(T;T)
Reference Rs878854610(A;A)
Significance Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene TGFBR2
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000003.11:g.30715613A>G
CLNSRC
CLNACC RCV000234122.1,