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rs140954477

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140954477(C;T)
Make rs140954477(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48490006
GeneFBN1
is asnp
is mentioned by
dbSNPrs140954477
ebirs140954477
HLIrs140954477
Exacrs140954477
Varsomers140954477
Maprs140954477
PheGenIrs140954477
hapmaprs140954477
1000 genomesrs140954477
hgdprs140954477
ensemblrs140954477
gopubmedrs140954477
geneviewrs140954477
scholarrs140954477
googlers140954477
pharmgkbrs140954477
gwascentralrs140954477
openSNPrs140954477
23andMers140954477
23andMe allrs140954477
SNP Nexus

SNPshotrs140954477
SNPdbers140954477
MSV3drs140954477
GWAS Ctlgrs140954477
Max Magnitude0
ClinVar
Risk rs140954477(T;T)
Alt rs140954477(T;T)
Reference rs140954477(C;C)
Significance Probable-Pathogenic
Disease not specified Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN not specified Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000015.9:g.48782203C>T
CLNSRC
CLNACC RCV000035155.2, RCV000148497.1, RCV000181471.1,