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rs397515791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515791(G;T)
Make rs397515791(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48487362
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515791
ebirs397515791
HLIrs397515791
Exacrs397515791
Varsomers397515791
Maprs397515791
PheGenIrs397515791
hapmaprs397515791
1000 genomesrs397515791
hgdprs397515791
ensemblrs397515791
gopubmedrs397515791
geneviewrs397515791
scholarrs397515791
googlers397515791
pharmgkbrs397515791
gwascentralrs397515791
openSNPrs397515791
23andMers397515791
23andMe allrs397515791
SNP Nexus

SNPshotrs397515791
SNPdbers397515791
MSV3drs397515791
GWAS Ctlgrs397515791
Max Magnitude0
ClinVar
Risk rs397515791(T;T)
Alt rs397515791(T;T)
Reference rs397515791(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48779559C>A
CLNSRC ClinVar
CLNACC RCV000035169.2,