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rs397515808

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
(G;G) 0 common in clinvar


Make rs397515808(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position48470687
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515808
dbSNP (classic)rs397515808
ClinGenrs397515808
ebirs397515808
HLIrs397515808
Exacrs397515808
Gnomadrs397515808
Varsomers397515808
LitVarrs397515808
Maprs397515808
PheGenIrs397515808
Biobankrs397515808
1000 genomesrs397515808
hgdprs397515808
ensemblrs397515808
geneviewrs397515808
scholarrs397515808
googlers397515808
pharmgkbrs397515808
gwascentralrs397515808
openSNPrs397515808
23andMers397515808
SNPshotrs397515808
SNPdbers397515808
MSV3drs397515808
GWAS Ctlgrs397515808
Max Magnitude6.5
ClinVar
Risk rs397515808(A;A) rs397515808(C;C)
Alt rs397515808(A;A) rs397515808(C;C)
Reference Rs397515808(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48762884C>G
CLNSRC ClinVar
CLNACC RCV000035200.2,