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rs137854477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854477(A;A)
Make rs137854477(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48489979
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854477
ebirs137854477
HLIrs137854477
Exacrs137854477
Varsomers137854477
Maprs137854477
PheGenIrs137854477
hapmaprs137854477
1000 genomesrs137854477
hgdprs137854477
ensemblrs137854477
gopubmedrs137854477
geneviewrs137854477
scholarrs137854477
googlers137854477
pharmgkbrs137854477
gwascentralrs137854477
openSNPrs137854477
23andMers137854477
23andMe allrs137854477
SNP Nexus

SNPshotrs137854477
SNPdbers137854477
MSV3drs137854477
GWAS Ctlgrs137854477
Max Magnitude0
OMIM134797
Desc
Variant0034
Relatedalso
ClinVar
Risk rs137854477(A;A)
Alt rs137854477(A;A)
Reference rs137854477(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, atypical
Reversed 1
HGVS NC_000015.9:g.48782176C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017916.23,