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rs397515840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515840(C;T)
Make rs397515840(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48430701
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515840
ebirs397515840
HLIrs397515840
Exacrs397515840
Varsomers397515840
Maprs397515840
PheGenIrs397515840
hapmaprs397515840
1000 genomesrs397515840
hgdprs397515840
ensemblrs397515840
gopubmedrs397515840
geneviewrs397515840
scholarrs397515840
googlers397515840
pharmgkbrs397515840
gwascentralrs397515840
openSNPrs397515840
23andMers397515840
23andMe allrs397515840
SNP Nexus

SNPshotrs397515840
SNPdbers397515840
MSV3drs397515840
GWAS Ctlgrs397515840
Max Magnitude0
ClinVar
Risk rs397515840(T;T)
Alt rs397515840(T;T)
Reference rs397515840(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48722898G>A
CLNSRC ClinVar
CLNACC RCV000035256.2,