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rs397515848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515848(C;T)
Make rs397515848(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48427591
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515848
ebirs397515848
HLIrs397515848
Exacrs397515848
Varsomers397515848
Maprs397515848
PheGenIrs397515848
hapmaprs397515848
1000 genomesrs397515848
hgdprs397515848
ensemblrs397515848
gopubmedrs397515848
geneviewrs397515848
scholarrs397515848
googlers397515848
pharmgkbrs397515848
gwascentralrs397515848
openSNPrs397515848
23andMers397515848
23andMe allrs397515848
SNP Nexus

SNPshotrs397515848
SNPdbers397515848
MSV3drs397515848
GWAS Ctlgrs397515848
Max Magnitude0
ClinVar
Risk rs397515848(T;T)
Alt rs397515848(T;T)
Reference rs397515848(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48719788G>A
CLNSRC ClinVar
CLNACC RCV000035267.2,