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rs794728295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728295(-;-)
Make rs794728295(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48516319
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728295
dbSNP (classic)rs794728295
ClinGenrs794728295
ebirs794728295
HLIrs794728295
Exacrs794728295
Gnomadrs794728295
Varsomers794728295
LitVarrs794728295
Maprs794728295
PheGenIrs794728295
Biobankrs794728295
1000 genomesrs794728295
hgdprs794728295
ensemblrs794728295
geneviewrs794728295
scholarrs794728295
googlers794728295
pharmgkbrs794728295
gwascentralrs794728295
openSNPrs794728295
23andMers794728295
SNPshotrs794728295
SNPdbers794728295
MSV3drs794728295
GWAS Ctlgrs794728295
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs794728295(G;G)
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.48808516delC
CLNSRC
CLNACC RCV000181650.1,