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rs397515867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 5.5 Marfan syndrome mutation
Make rs397515867(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48526159
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515867
dbSNP (classic)rs397515867
ClinGenrs397515867
ebirs397515867
HLIrs397515867
Exacrs397515867
Gnomadrs397515867
Varsomers397515867
LitVarrs397515867
Maprs397515867
PheGenIrs397515867
Biobankrs397515867
1000 genomesrs397515867
hgdprs397515867
ensemblrs397515867
geneviewrs397515867
scholarrs397515867
googlers397515867
pharmgkbrs397515867
gwascentralrs397515867
openSNPrs397515867
23andMers397515867
SNPshotrs397515867
SNPdbers397515867
MSV3drs397515867
GWAS Ctlgrs397515867
Max Magnitude5.5
ClinVar
Risk rs397515867(T;T)
Alt rs397515867(T;T)
Reference Rs397515867(-;-)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48818357dupA
CLNSRC ClinVar
CLNACC RCV000035294.2,