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rs794728165

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
Make rs794728165(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48520716
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728165
dbSNP (classic)rs794728165
ClinGenrs794728165
ebirs794728165
HLIrs794728165
Exacrs794728165
Gnomadrs794728165
Varsomers794728165
LitVarrs794728165
Maprs794728165
PheGenIrs794728165
Biobankrs794728165
1000 genomesrs794728165
hgdprs794728165
ensemblrs794728165
geneviewrs794728165
scholarrs794728165
googlers794728165
pharmgkbrs794728165
gwascentralrs794728165
openSNPrs794728165
23andMers794728165
SNPshotrs794728165
SNPdbers794728165
MSV3drs794728165
GWAS Ctlgrs794728165
Max Magnitude6.5
ClinVar
Risk rs794728165(T;T)
Alt rs794728165(T;T)
Reference Rs794728165(C;C)
Significance Pathogenic
Disease not provided Marfan syndrome
Variation info
Gene FBN1
CLNDBN not provided Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48812913G>A
CLNSRC
CLNACC RCV000181424.2, RCV000457438.1,