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rs137854459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854459(C;C)
Make rs137854459(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48463977
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854459
dbSNP (old)rs137854459
ClinGenrs137854459
ebirs137854459
HLIrs137854459
Exacrs137854459
Varsomers137854459
Maprs137854459
PheGenIrs137854459
Biobankrs137854459
1000 genomesrs137854459
hgdprs137854459
ensemblrs137854459
gopubmedrs137854459
geneviewrs137854459
scholarrs137854459
googlers137854459
pharmgkbrs137854459
gwascentralrs137854459
openSNPrs137854459
23andMers137854459
23andMe allrs137854459
SNP Nexus

SNPshotrs137854459
SNPdbers137854459
MSV3drs137854459
GWAS Ctlgrs137854459
Max Magnitude0
OMIM134797
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137854459(C;C)
Alt rs137854459(C;C)
Reference Rs137854459(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48756174A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017888.28,