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rs794728194

From SNPedia

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


Make rs794728194(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48495162
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728194
dbSNP (classic)rs794728194
ClinGenrs794728194
ebirs794728194
HLIrs794728194
Exacrs794728194
Gnomadrs794728194
Varsomers794728194
LitVarrs794728194
Maprs794728194
PheGenIrs794728194
Biobankrs794728194
1000 genomesrs794728194
hgdprs794728194
ensemblrs794728194
geneviewrs794728194
scholarrs794728194
googlers794728194
pharmgkbrs794728194
gwascentralrs794728194
openSNPrs794728194
23andMers794728194
SNPshotrs794728194
SNPdbers794728194
MSV3drs794728194
GWAS Ctlgrs794728194
Max Magnitude6.5
ClinVar
Risk rs794728194(A;A) rs794728194(C;C)
Alt rs794728194(A;A) rs794728194(C;C)
Reference Rs794728194(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48787359C>G
CLNSRC
CLNACC RCV000457187.1,