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rs387906547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906547(A;T)
Make rs387906547(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48474652
GeneFBN1
is asnp
is mentioned by
dbSNPrs387906547
ebirs387906547
HLIrs387906547
Exacrs387906547
Varsomers387906547
Maprs387906547
PheGenIrs387906547
hapmaprs387906547
1000 genomesrs387906547
hgdprs387906547
ensemblrs387906547
gopubmedrs387906547
geneviewrs387906547
scholarrs387906547
googlers387906547
pharmgkbrs387906547
gwascentralrs387906547
openSNPrs387906547
23andMers387906547
23andMe allrs387906547
SNP Nexus

SNPshotrs387906547
SNPdbers387906547
MSV3drs387906547
GWAS Ctlgrs387906547
Max Magnitude0
ClinVar
Risk rs387906547(T;T)
Alt rs387906547(T;T)
Reference rs387906547(A;A)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, neonatal
Reversed 1
HGVS NC_000015.9:g.48766849T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017903.27,