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rs137854474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854474(C;C)
Make rs137854474(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48483863
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854474
ebirs137854474
HLIrs137854474
Exacrs137854474
Varsomers137854474
Maprs137854474
PheGenIrs137854474
hapmaprs137854474
1000 genomesrs137854474
hgdprs137854474
ensemblrs137854474
gopubmedrs137854474
geneviewrs137854474
scholarrs137854474
googlers137854474
pharmgkbrs137854474
gwascentralrs137854474
openSNPrs137854474
23andMers137854474
23andMe allrs137854474
SNP Nexus

SNPshotrs137854474
SNPdbers137854474
MSV3drs137854474
GWAS Ctlgrs137854474
Max Magnitude0
OMIM134797
Desc
Variant0031
Relatedalso
ClinVar
Risk rs137854474(C;C)
Alt rs137854474(C;C)
Reference rs137854474(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48776060A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017913.27,