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rs137854475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854475(A;A)
Make rs137854475(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48487155
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854475
ebirs137854475
HLIrs137854475
Exacrs137854475
Varsomers137854475
Maprs137854475
PheGenIrs137854475
hapmaprs137854475
1000 genomesrs137854475
hgdprs137854475
ensemblrs137854475
gopubmedrs137854475
geneviewrs137854475
scholarrs137854475
googlers137854475
pharmgkbrs137854475
gwascentralrs137854475
openSNPrs137854475
23andMers137854475
23andMe allrs137854475
SNP Nexus

SNPshotrs137854475
SNPdbers137854475
MSV3drs137854475
GWAS Ctlgrs137854475
GMAF0.0004591
Max Magnitude0
OMIM134797
Desc
Variant0032
Relatedalso
ClinVar
Risk rs137854475(A;A)
Alt rs137854475(A;A)
Reference rs137854475(G;G)
Significance Other
Disease Marfan syndrome Marfan syndrome not specified Marfanoid habitus not provided Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN Marfan syndrome, subdiagnostic variant of Marfan syndrome not specified Marfanoid habitus not provided Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48779352C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017914.23, RCV000148494.1, RCV000154459.3, RCV000157227.1, RCV000176913.1, RCV000231987.1,