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rs397515819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515819(C;C)
Make rs397515819(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48463241
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515819
ebirs397515819
HLIrs397515819
Exacrs397515819
Varsomers397515819
Maprs397515819
PheGenIrs397515819
hapmaprs397515819
1000 genomesrs397515819
hgdprs397515819
ensemblrs397515819
gopubmedrs397515819
geneviewrs397515819
scholarrs397515819
googlers397515819
pharmgkbrs397515819
gwascentralrs397515819
openSNPrs397515819
23andMers397515819
23andMe allrs397515819
SNP Nexus

SNPshotrs397515819
SNPdbers397515819
MSV3drs397515819
GWAS Ctlgrs397515819
Max Magnitude0
ClinVar
Risk rs397515819(C;C)
Alt rs397515819(C;C)
Reference rs397515819(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48755438C>G
CLNSRC ClinVar
CLNACC RCV000035219.2,