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rs137854479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854479(A;G)
Make rs137854479(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48497298
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854479
ebirs137854479
HLIrs137854479
Exacrs137854479
Varsomers137854479
Maprs137854479
PheGenIrs137854479
hapmaprs137854479
1000 genomesrs137854479
hgdprs137854479
ensemblrs137854479
gopubmedrs137854479
geneviewrs137854479
scholarrs137854479
googlers137854479
pharmgkbrs137854479
gwascentralrs137854479
openSNPrs137854479
23andMers137854479
23andMe allrs137854479
SNP Nexus

SNPshotrs137854479
SNPdbers137854479
MSV3drs137854479
GWAS Ctlgrs137854479
Merged fromRs28929500
Max Magnitude0
OMIM134797
Desc
Variant0041
Relatedalso
ClinVar
Risk rs137854479(G;G)
Alt rs137854479(G;G)
Reference rs137854479(A;A)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48789495T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017923.27,