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rs794728162

From SNPedia

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


Make rs794728162(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48537707
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728162
dbSNP (classic)rs794728162
ClinGenrs794728162
ebirs794728162
HLIrs794728162
Exacrs794728162
Gnomadrs794728162
Varsomers794728162
LitVarrs794728162
Maprs794728162
PheGenIrs794728162
Biobankrs794728162
1000 genomesrs794728162
hgdprs794728162
ensemblrs794728162
geneviewrs794728162
scholarrs794728162
googlers794728162
pharmgkbrs794728162
gwascentralrs794728162
openSNPrs794728162
23andMers794728162
SNPshotrs794728162
SNPdbers794728162
MSV3drs794728162
GWAS Ctlgrs794728162
Merged fromRs113111224
Max Magnitude6.5
ClinVar
Risk rs794728162(A;A)
Alt rs794728162(A;A)
Reference Rs794728162(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48829904C>T
CLNSRC
CLNACC RCV000460503.1,