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rs137854458

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854458(C;C)
Make rs137854458(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48483910
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854458
ebirs137854458
HLIrs137854458
Exacrs137854458
Varsomers137854458
Maprs137854458
PheGenIrs137854458
hapmaprs137854458
1000 genomesrs137854458
hgdprs137854458
ensemblrs137854458
gopubmedrs137854458
geneviewrs137854458
scholarrs137854458
googlers137854458
pharmgkbrs137854458
gwascentralrs137854458
openSNPrs137854458
23andMers137854458
23andMe allrs137854458
SNP Nexus

SNPshotrs137854458
SNPdbers137854458
MSV3drs137854458
GWAS Ctlgrs137854458
Max Magnitude0
OMIM134797
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137854458(C;C)
Alt rs137854458(C;C)
Reference rs137854458(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48776107C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017887.27,