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rs137854457

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854457(C;C)
Make rs137854457(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48428423
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854457
ebirs137854457
HLIrs137854457
Exacrs137854457
Varsomers137854457
Maprs137854457
PheGenIrs137854457
hapmaprs137854457
1000 genomesrs137854457
hgdprs137854457
ensemblrs137854457
gopubmedrs137854457
geneviewrs137854457
scholarrs137854457
googlers137854457
pharmgkbrs137854457
gwascentralrs137854457
openSNPrs137854457
23andMers137854457
23andMe allrs137854457
SNP Nexus

SNPshotrs137854457
SNPdbers137854457
MSV3drs137854457
GWAS Ctlgrs137854457
Max Magnitude0
OMIM134797
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137854457(A,C;A,C)
Alt rs137854457(A,C;A,C)
Reference rs137854457(G;G)
Significance Pathogenic
Disease Marfan syndrome Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, mild variable Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48720620C>G; NC_000015.9:g.48720620C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017884.27, RCV000035259.2,