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rs137854471

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854471(A;A)
Make rs137854471(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48483931
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854471
ebirs137854471
HLIrs137854471
Exacrs137854471
Varsomers137854471
Maprs137854471
PheGenIrs137854471
hapmaprs137854471
1000 genomesrs137854471
hgdprs137854471
ensemblrs137854471
gopubmedrs137854471
geneviewrs137854471
scholarrs137854471
googlers137854471
pharmgkbrs137854471
gwascentralrs137854471
openSNPrs137854471
23andMers137854471
23andMe allrs137854471
SNP Nexus

SNPshotrs137854471
SNPdbers137854471
MSV3drs137854471
GWAS Ctlgrs137854471
Max Magnitude0
OMIM134797
Desc
Variant0026
Relatedalso
ClinVar
Risk rs137854471(A;A)
Alt rs137854471(A;A)
Reference rs137854471(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48776128C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017891.27,