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rs137854460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854460(C;C)
Make rs137854460(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48432943
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854460
ebirs137854460
HLIrs137854460
Exacrs137854460
Varsomers137854460
Maprs137854460
PheGenIrs137854460
hapmaprs137854460
1000 genomesrs137854460
hgdprs137854460
ensemblrs137854460
gopubmedrs137854460
geneviewrs137854460
scholarrs137854460
googlers137854460
pharmgkbrs137854460
gwascentralrs137854460
openSNPrs137854460
23andMers137854460
23andMe allrs137854460
SNP Nexus

SNPshotrs137854460
SNPdbers137854460
MSV3drs137854460
GWAS Ctlgrs137854460
Max Magnitude0
OMIM134797
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137854460(C;C)
Alt rs137854460(C;C)
Reference rs137854460(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48725140C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017889.27,