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rs397515847

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515847(C;C)
Make rs397515847(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48427603
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515847
ebirs397515847
HLIrs397515847
Exacrs397515847
Varsomers397515847
Maprs397515847
PheGenIrs397515847
hapmaprs397515847
1000 genomesrs397515847
hgdprs397515847
ensemblrs397515847
gopubmedrs397515847
geneviewrs397515847
scholarrs397515847
googlers397515847
pharmgkbrs397515847
gwascentralrs397515847
openSNPrs397515847
23andMers397515847
23andMe allrs397515847
SNP Nexus

SNPshotrs397515847
SNPdbers397515847
MSV3drs397515847
GWAS Ctlgrs397515847
Max Magnitude0
ClinVar
Risk rs397515847(C;C)
Alt rs397515847(C;C)
Reference rs397515847(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48719800A>G
CLNSRC ClinVar
CLNACC RCV000035266.3,