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rs25404

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
(G;G) 0 common in clinvar
(G;T) 5.5 Marfan syndrome mutation


Make rs25404(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position48613009
GeneFBN1
is asnp
is mentioned by
dbSNPrs25404
dbSNP (classic)rs25404
ClinGenrs25404
ebirs25404
HLIrs25404
Exacrs25404
Gnomadrs25404
Varsomers25404
LitVarrs25404
Maprs25404
PheGenIrs25404
Biobankrs25404
1000 genomesrs25404
hgdprs25404
ensemblrs25404
geneviewrs25404
scholarrs25404
googlers25404
pharmgkbrs25404
gwascentralrs25404
openSNPrs25404
23andMers25404
SNPshotrs25404
SNPdbers25404
MSV3drs25404
GWAS Ctlgrs25404
Max Magnitude6.5
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs25404(A;A)
Alt rs25404(A;A)
Reference Rs25404(G;G)
Significance Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48905206C>T
CLNSRC ClinVar
CLNACC RCV000035141.2, RCV000181642.4,