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rs137854476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854476(C;T)
Make rs137854476(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48513552
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854476
ebirs137854476
HLIrs137854476
Exacrs137854476
Varsomers137854476
Maprs137854476
PheGenIrs137854476
hapmaprs137854476
1000 genomesrs137854476
hgdprs137854476
ensemblrs137854476
gopubmedrs137854476
geneviewrs137854476
scholarrs137854476
googlers137854476
pharmgkbrs137854476
gwascentralrs137854476
openSNPrs137854476
23andMers137854476
23andMe allrs137854476
SNP Nexus

SNPshotrs137854476
SNPdbers137854476
MSV3drs137854476
GWAS Ctlgrs137854476
Max Magnitude0
OMIM134797
Desc
Variant0033
Relatedalso
ClinVar
Risk rs137854476(T;T)
Alt rs137854476(T;T)
Reference rs137854476(C;C)
Significance Pathogenic
Disease Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48805749G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017915.23, RCV000181685.1,