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rs794728317

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794728317(-;GT)
Make rs794728317(GT;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48437049
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728317
ClinGenrs794728317
ebirs794728317
HLIrs794728317
Exacrs794728317
Varsomers794728317
Maprs794728317
PheGenIrs794728317
hapmaprs794728317
1000 genomesrs794728317
hgdprs794728317
ensemblrs794728317
gopubmedrs794728317
geneviewrs794728317
scholarrs794728317
googlers794728317
pharmgkbrs794728317
gwascentralrs794728317
openSNPrs794728317
23andMers794728317
23andMe allrs794728317
SNP Nexus

SNPshotrs794728317
SNPdbers794728317
MSV3drs794728317
GWAS Ctlgrs794728317
Max Magnitude0
ClinVar
Risk rs794728317(GT;GT)
Alt rs794728317(GT;GT)
Reference Rs794728317(-;-)
Significance 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.48729247_48729248dupAC
CLNSRC
CLNACC RCV000181672.1,