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rs397514558

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514558(C;T)
Make rs397514558(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48490013
GeneFBN1
is asnp
is mentioned by
dbSNPrs397514558
ebirs397514558
HLIrs397514558
Exacrs397514558
Varsomers397514558
Maprs397514558
PheGenIrs397514558
hapmaprs397514558
1000 genomesrs397514558
hgdprs397514558
ensemblrs397514558
gopubmedrs397514558
geneviewrs397514558
scholarrs397514558
googlers397514558
pharmgkbrs397514558
gwascentralrs397514558
openSNPrs397514558
23andMers397514558
23andMe allrs397514558
SNP Nexus

SNPshotrs397514558
SNPdbers397514558
MSV3drs397514558
GWAS Ctlgrs397514558
Max Magnitude0
ClinVar
Risk rs397514558(T;T)
Alt rs397514558(T;T)
Reference rs397514558(C;C)
Significance Pathogenic
Disease Marfan syndrome Ectopia lentis
Variation info
Gene FBN1
CLNDBN Marfan syndrome Ectopia lentis, isolated, autosomal dominant
Reversed 1
HGVS NC_000015.9:g.48782210G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032871.24, RCV000172857.2,