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rs397515797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 5.5 Marfan syndrome mutation
(T;T) 0 common in clinvar


Make rs397515797(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position48481733
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515797
dbSNP (classic)rs397515797
ClinGenrs397515797
ebirs397515797
HLIrs397515797
Exacrs397515797
Gnomadrs397515797
Varsomers397515797
LitVarrs397515797
Maprs397515797
PheGenIrs397515797
Biobankrs397515797
1000 genomesrs397515797
hgdprs397515797
ensemblrs397515797
geneviewrs397515797
scholarrs397515797
googlers397515797
pharmgkbrs397515797
gwascentralrs397515797
openSNPrs397515797
23andMers397515797
SNPshotrs397515797
SNPdbers397515797
MSV3drs397515797
GWAS Ctlgrs397515797
Max Magnitude5.5
ClinVar
Risk rs397515797(C;C)
Alt rs397515797(C;C)
Reference Rs397515797(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48773930A>G
CLNSRC ClinVar
CLNACC RCV000035182.2, RCV000181498.2,