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rs794728301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs794728301(-;-)
Make rs794728301(-;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48495230
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728301
dbSNP (classic)rs794728301
ClinGenrs794728301
ebirs794728301
HLIrs794728301
Exacrs794728301
Gnomadrs794728301
Varsomers794728301
LitVarrs794728301
Maprs794728301
PheGenIrs794728301
Biobankrs794728301
1000 genomesrs794728301
hgdprs794728301
ensemblrs794728301
geneviewrs794728301
scholarrs794728301
googlers794728301
pharmgkbrs794728301
gwascentralrs794728301
openSNPrs794728301
23andMers794728301
SNPshotrs794728301
SNPdbers794728301
MSV3drs794728301
GWAS Ctlgrs794728301
Max Magnitude0
ClinVar
Risk rs794728301(-;-)
Alt rs794728301(-;-)
Reference Rs794728301(GT;GT)
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.48787427_48787428delAC
CLNSRC
CLNACC RCV000181656.1,