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rs794728214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794728214(A;C)
Make rs794728214(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48474640
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728214
dbSNP (classic)rs794728214
ClinGenrs794728214
ebirs794728214
HLIrs794728214
Exacrs794728214
Gnomadrs794728214
Varsomers794728214
LitVarrs794728214
Maprs794728214
PheGenIrs794728214
Biobankrs794728214
1000 genomesrs794728214
hgdprs794728214
ensemblrs794728214
geneviewrs794728214
scholarrs794728214
googlers794728214
pharmgkbrs794728214
gwascentralrs794728214
openSNPrs794728214
23andMers794728214
SNPshotrs794728214
SNPdbers794728214
MSV3drs794728214
GWAS Ctlgrs794728214
Max Magnitude0
ClinVar
Risk rs794728214(C;C)
Alt rs794728214(C;C)
Reference Rs794728214(A;A)
Significance Probable-Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48766837T>G
CLNSRC
CLNACC RCV000181503.1,