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rs137854456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854456(A;A)
Make rs137854456(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48487365
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854456
ebirs137854456
HLIrs137854456
Exacrs137854456
Varsomers137854456
Maprs137854456
PheGenIrs137854456
hapmaprs137854456
1000 genomesrs137854456
hgdprs137854456
ensemblrs137854456
gopubmedrs137854456
geneviewrs137854456
scholarrs137854456
googlers137854456
pharmgkbrs137854456
gwascentralrs137854456
openSNPrs137854456
23andMers137854456
23andMe allrs137854456
SNP Nexus

SNPshotrs137854456
SNPdbers137854456
MSV3drs137854456
GWAS Ctlgrs137854456
Max Magnitude0
OMIM134797
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137854456(A,C,T;A,C,T)
Alt rs137854456(A,C,T;A,C,T)
Reference rs137854456(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, severe classic
Reversed 1
HGVS NC_000015.9:g.48779562C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017883.29,