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rs387906548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906548(A;A)
Make rs387906548(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48474527
GeneFBN1
is asnp
is mentioned by
dbSNPrs387906548
ebirs387906548
HLIrs387906548
Exacrs387906548
Varsomers387906548
Maprs387906548
PheGenIrs387906548
hapmaprs387906548
1000 genomesrs387906548
hgdprs387906548
ensemblrs387906548
gopubmedrs387906548
geneviewrs387906548
scholarrs387906548
googlers387906548
pharmgkbrs387906548
gwascentralrs387906548
openSNPrs387906548
23andMers387906548
23andMe allrs387906548
SNP Nexus

SNPshotrs387906548
SNPdbers387906548
MSV3drs387906548
GWAS Ctlgrs387906548
Max Magnitude0
ClinVar
Risk rs387906548(A;A)
Alt rs387906548(A;A)
Reference rs387906548(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, neonatal
Reversed 1
HGVS NC_000015.9:g.48766724C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017904.27,